Linked Data
dbSNP Id:
rs3087404
gnomAD v2:
12-54581614-T-C
gnomAD v3:
12-54187830-T-C
gnomAD v4:
12-54187830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54187830T>C , CM000674.2:g.54187830T>C | GRCh38 |
| NC_000012.11:g.54581614T>C , CM000674.1:g.54581614T>C | GRCh37 |
| NC_000012.10:g.52867881T>C | NCBI36 |
| NG_047137.1:g.6165A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682136.1:c.-31A>G MANE Select | ENSP00000507590.1:n.-31A>G | |
| ENST00000243112.9:c.-20+1121A>G | ENSP00000243112.5:n.-20+1121A>G | |
| ENST00000337581.7:c.-31A>G | ENSP00000338606.3:n.-31A>G | |
| ENST00000401977.6:c.-20+685A>G | ENSP00000384828.2:n.-20+685A>G | |
| ENST00000503231.1:n.357A>G | ||
| ENST00000503306.5:c.-196A>G | ENSP00000425426.1:n.-196A>G | |
| ENST00000503447.1:n.42+1121A>G | ||
| ENST00000504338.5:c.-31A>G | ENSP00000423083.1:n.-31A>G | |
| ENST00000504797.1:c.-31A>G | ENSP00000421790.1:n.-31A>G | |
| ENST00000505128.5:c.-20+685A>G | ENSP00000421894.1:n.-20+685A>G | |
| ENST00000505597.1:n.454A>G | ||
| ENST00000505662.1:n.77A>G | ||
| ENST00000506169.5:c.-185+685A>G | ENSP00000427547.1:n.-185+685A>G | |
| ENST00000506595.5:c.-20+685A>G | ENSP00000421206.1:n.-20+685A>G | |
| ENST00000507904.5:c.-20+685A>G | ENSP00000423457.1:n.-20+685A>G | |
| ENST00000508394.6:c.-20+1121A>G | ENSP00000424191.1:n.-20+1121A>G | |
| ENST00000511522.5:n.35+1121A>G | ||
| ENST00000513838.5:c.-31A>G | ENSP00000423629.1:n.-31A>G | |
| ENST00000514196.5:c.-20+1121A>G | ENSP00000425974.1:n.-20+1121A>G | |
| ENST00000514685.5:c.-31A>G | ENSP00000421139.1:n.-31A>G | |
| ENST00000635234.1:n.115+685A>G | ||
| ENST00000635546.1:c.-31A>G | ENSP00000489489.1:n.-31A>G | |
| NM_001243787.1:c.-31A>G | NP_001230716.1:n.-31A>G | |
| NM_001243788.1:c.-20+1121A>G | NP_001230717.1:n.-20+1121A>G | |
| NM_001243789.1:c.-31A>G | NP_001230718.1:n.-31A>G | |
| NM_001243790.1:c.-31A>G | NP_001230719.1:n.-31A>G | |
| NM_001243791.1:c.-20+1121A>G | NP_001230720.1:n.-20+1121A>G | |
| NM_014311.2:c.-31A>G | NP_055126.1:n.-31A>G | |
| NR_045039.1:n.126+685A>G | ||
| XM_006719319.2:c.-150A>G | XP_006719382.1:n.-150A>G | |
| XM_006719320.2:c.-281A>G | XP_006719383.1:n.-281A>G | |
| XM_006719321.2:c.-20+685A>G | XP_006719384.1:n.-20+685A>G | |
| XM_006719322.2:c.-31A>G | XP_006719385.1:n.-31A>G | |
| XM_011538109.1:c.-31A>G | XP_011536411.1:n.-31A>G | |
| XM_011538110.1:c.-31A>G | XP_011536412.1:n.-31A>G | |
| XM_011538111.1:c.-31A>G | XP_011536413.1:n.-31A>G | |
| XM_011538112.1:c.-31A>G | XP_011536414.1:n.-31A>G | |
| XM_011538113.1:c.-31A>G | XP_011536415.1:n.-31A>G | |
| XM_011538114.1:c.-31A>G | XP_011536416.1:n.-31A>G | |
| XM_011538115.1:c.-31A>G | XP_011536417.1:n.-31A>G | |
| XM_011538116.1:c.-31A>G | XP_011536418.1:n.-31A>G | |
| XM_011538117.1:c.-31A>G | XP_011536419.1:n.-31A>G | |
| XM_011538118.1:c.-31A>G | XP_011536420.1:n.-31A>G | |
| XM_011538119.1:c.-31A>G | XP_011536421.1:n.-31A>G | |
| XM_011538120.1:c.-20+681A>G | XP_011536422.1:n.-20+681A>G | |
| XM_011538121.1:c.-281A>G | XP_011536423.1:n.-281A>G | |
| XM_011538122.1:c.-31A>G | XP_011536424.1:n.-31A>G | |
| XM_011538123.1:c.-31A>G | XP_011536425.1:n.-31A>G | |
| NM_001351237.1:c.-20+685A>G | NP_001338166.1:n.-20+685A>G | |
| NM_001351238.1:c.-31A>G | NP_001338167.1:n.-31A>G | |
| NM_001351239.1:c.-31A>G | NP_001338168.1:n.-31A>G | |
| NM_001351240.1:c.-281A>G | NP_001338169.1:n.-281A>G | |
| NM_001351241.1:c.-31A>G | NP_001338170.1:n.-31A>G | |
| NM_001351242.1:c.-138-819A>G | NP_001338171.1:n.-138-819A>G | |
| NM_001351243.1:c.-20+681A>G | NP_001338172.1:n.-20+681A>G | |
| NM_001351244.1:c.-281A>G | NP_001338173.1:n.-281A>G | |
| NM_001351245.1:c.-281A>G | NP_001338174.1:n.-281A>G | |
| NM_001351246.1:c.-281A>G | NP_001338175.1:n.-281A>G | |
| NM_001351247.1:c.-31A>G | NP_001338176.1:n.-31A>G | |
| NM_001351248.1:c.-31A>G | NP_001338177.1:n.-31A>G | |
| NM_001351249.1:c.-281A>G | NP_001338178.1:n.-281A>G | |
| NM_001351250.1:c.-31A>G | NP_001338179.1:n.-31A>G | |
| NM_001351251.1:c.-31A>G | NP_001338180.1:n.-31A>G | |
| NM_001351252.1:c.-31A>G | NP_001338181.1:n.-31A>G | |
| NM_001351253.1:c.-31A>G | NP_001338182.1:n.-31A>G | |
| NM_001351254.1:c.-31A>G | NP_001338183.1:n.-31A>G | |
| NM_001351255.1:c.-31A>G | NP_001338184.1:n.-31A>G | |
| NM_001351256.1:c.-31A>G | NP_001338185.1:n.-31A>G | |
| NM_001351257.1:c.-31A>G | NP_001338186.1:n.-31A>G | |
| NM_001351258.1:c.-31A>G | NP_001338187.1:n.-31A>G | |
| NM_001351259.1:c.-22+1121A>G | NP_001338188.1:n.-22+1121A>G | |
| NM_001351260.1:c.-217+685A>G | NP_001338189.1:n.-217+685A>G | |
| NM_001351261.1:c.-20+1121A>G | NP_001338190.1:n.-20+1121A>G | |
| NM_001351262.1:c.-20+685A>G | NP_001338191.1:n.-20+685A>G | |
| XM_006719319.3:c.-150A>G | XP_006719382.1:n.-150A>G | |
| XM_011538112.2:c.-31A>G | XP_011536414.1:n.-31A>G | |
| XM_011538116.2:c.-31A>G | XP_011536418.1:n.-31A>G | |
| XM_011538118.2:c.-31A>G | XP_011536420.1:n.-31A>G | |
| XM_011538119.2:c.-31A>G | XP_011536421.1:n.-31A>G | |
| XM_011538121.2:c.-281A>G | XP_011536423.1:n.-281A>G | |
| XM_017019119.2:c.-150A>G | XP_016874608.1:n.-150A>G | |
| XM_024448913.1:c.-281A>G | XP_024304681.1:n.-281A>G | |
| XR_002957302.1:n.150A>G | ||
| XR_002957303.1:n.150A>G | ||
| NM_001243789.2:c.-31A>G | NP_001230718.1:n.-31A>G | |
| NM_001243790.2:c.-31A>G | NP_001230719.1:n.-31A>G | |
| NM_001243791.2:c.-20+1121A>G | NP_001230720.1:n.-20+1121A>G | |
| NM_001351237.2:c.-20+685A>G | NP_001338166.1:n.-20+685A>G | |
| NM_001351238.2:c.-31A>G | NP_001338167.1:n.-31A>G | |
| NM_001351239.2:c.-31A>G | NP_001338168.1:n.-31A>G | |
| NM_001351240.2:c.-281A>G | NP_001338169.1:n.-281A>G | |
| NM_001351241.2:c.-31A>G | NP_001338170.1:n.-31A>G | |
| NM_001351258.2:c.-31A>G | NP_001338187.1:n.-31A>G | |
| NM_001351261.2:c.-20+1121A>G | NP_001338190.1:n.-20+1121A>G | |
| NM_001243787.2:c.-31A>G MANE Select | NP_001230716.1:n.-31A>G | |
| NM_001243788.2:c.-20+1121A>G | NP_001230717.1:n.-20+1121A>G | |
| NM_001351242.2:c.-138-819A>G | NP_001338171.1:n.-138-819A>G | |
| NM_001351243.2:c.-20+681A>G | NP_001338172.1:n.-20+681A>G | |
| NM_001351244.2:c.-281A>G | NP_001338173.1:n.-281A>G | |
| NM_001351245.2:c.-281A>G | NP_001338174.1:n.-281A>G | |
| NM_001351246.2:c.-281A>G | NP_001338175.1:n.-281A>G | |
| NM_001351247.2:c.-31A>G | NP_001338176.1:n.-31A>G | |
| NM_001351248.2:c.-31A>G | NP_001338177.1:n.-31A>G | |
| NM_001351249.2:c.-281A>G | NP_001338178.1:n.-281A>G | |
| NM_001351250.2:c.-31A>G | NP_001338179.1:n.-31A>G | |
| NM_001351251.2:c.-31A>G | NP_001338180.1:n.-31A>G | |
| NM_001351252.2:c.-31A>G | NP_001338181.1:n.-31A>G | |
| NM_001351253.2:c.-31A>G | NP_001338182.1:n.-31A>G | |
| NM_001351254.2:c.-31A>G | NP_001338183.1:n.-31A>G | |
| NM_001351255.2:c.-31A>G | NP_001338184.1:n.-31A>G | |
| NM_001351256.2:c.-31A>G | NP_001338185.1:n.-31A>G | |
| NM_001351257.2:c.-31A>G | NP_001338186.1:n.-31A>G | |
| NM_001351259.2:c.-22+1121A>G | NP_001338188.1:n.-22+1121A>G | |
| NM_001351260.2:c.-217+685A>G | NP_001338189.1:n.-217+685A>G | |
| NM_001351262.2:c.-20+685A>G | NP_001338191.1:n.-20+685A>G | |
| NM_014311.3:c.-31A>G | NP_055126.1:n.-31A>G |