Linked Data
ClinVar Variation Id:
2903600
ClinVar RCV Id:
RCV003726807
dbSNP Id:
rs147838313
ExAC:
12:120135517 G / A
gnomAD v2:
12-120135517-G-A
gnomAD v3:
12-119697712-G-A
gnomAD v4:
12-119697712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119697712G>A , CM000674.2:g.119697712G>A | GRCh38 |
| NC_000012.11:g.120135517G>A , CM000674.1:g.120135517G>A | GRCh37 |
| NC_000012.10:g.118619900G>A | NCBI36 |
| NG_029792.1:g.184579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.5829C>T MANE Select | ENSP00000376306.2:p.Asn1943= | |
| ENST00000545913.6:n.7992C>T | ||
| ENST00000676693.1:n.3155C>T | ||
| ENST00000676833.1:n.5189C>T | ||
| ENST00000676849.1:c.4446C>T | ENSP00000503214.1:p.Asn1482= | |
| ENST00000677438.1:c.*4935C>T | ENSP00000504095.1:n.*4935C>T | |
| ENST00000677738.1:n.3026C>T | ||
| ENST00000677742.1:n.1139C>T | ||
| ENST00000677812.1:c.*5049C>T | ENSP00000504400.1:n.*5049C>T | |
| ENST00000677849.1:c.*4935C>T | ENSP00000503820.1:n.*4935C>T | |
| ENST00000677993.1:c.4434C>T | ENSP00000503765.1:p.Asn1478= | |
| ENST00000678087.1:c.4320C>T | ENSP00000503863.1:p.Asn1440= | |
| ENST00000678236.1:n.7289C>T | ||
| ENST00000678494.1:c.1227-10678C>T | ENSP00000503854.1:n.1227-10678C>T | |
| ENST00000678652.1:c.4446C>T | ENSP00000504849.1:p.Asn1482= | |
| ENST00000678677.1:c.4233C>T | ENSP00000503253.1:p.Asn1411= | |
| ENST00000679120.1:c.*3836C>T | ENSP00000502891.1:n.*3836C>T | |
| ENST00000679249.1:c.4446C>T | ENSP00000503976.1:p.Asn1482= | |
| ENST00000679285.1:n.3325C>T | ||
| ENST00000261833.11:c.5703C>T | ENSP00000261833.7:p.Asn1901= | |
| ENST00000392520.2:c.4541C>T | ||
| ENST00000392521.6:c.5829C>T | ENSP00000376306.2:p.Asn1943= | |
| ENST00000469414.1:n.337C>T | ||
| ENST00000537607.5:n.4556C>T | ||
| ENST00000544872.1:n.398C>T | ||
| ENST00000545913.5:n.5700C>T | ||
| ENST00000612548.4:c.1442-9648C>T | ENSP00000482318.1:n.1442-9648C>T | |
| NM_001206999.1:c.5829C>T | NP_001193928.1:p.Asn1943= | |
| NM_007174.2:c.5703C>T | NP_009105.1:p.Asn1901= | |
| XM_006719206.2:c.5784C>T | XP_006719269.1:p.Asn1928= | |
| XM_011537783.1:c.5874C>T | XP_011536085.1:p.Asn1958= | |
| XM_011537784.1:c.5874C>T | XP_011536086.1:p.Asn1958= | |
| XM_011537785.1:c.5829C>T | XP_011536087.1:p.Asn1943= | |
| XM_011537786.1:c.5748C>T | XP_011536088.1:p.Asn1916= | |
| XM_011537787.1:c.5658C>T | XP_011536089.1:p.Asn1886= | |
| XM_011537788.1:c.5658C>T | XP_011536090.1:p.Asn1886= | |
| XM_011537789.1:c.4536C>T | XP_011536091.1:p.Asn1512= | |
| XM_011537790.1:c.4536C>T | XP_011536092.1:p.Asn1512= | |
| XM_011537791.1:c.4476C>T | XP_011536093.1:p.Asn1492= | |
| XM_011537792.1:c.4260C>T | XP_011536094.1:p.Asn1420= | |
| XM_011537790.2:c.4536C>T | XP_011536092.1:p.Asn1512= | |
| XM_011537791.2:c.4476C>T | XP_011536093.1:p.Asn1492= | |
| XM_011537792.2:c.4260C>T | XP_011536094.1:p.Asn1420= | |
| XM_017018735.1:c.5829C>T | XP_016874224.1:p.Asn1943= | |
| XM_017018736.1:c.5829C>T | XP_016874225.1:p.Asn1943= | |
| XM_017018737.1:c.5784C>T | XP_016874226.1:p.Asn1928= | |
| XM_017018738.1:c.4350C>T | XP_016874227.1:p.Asn1450= | |
| XM_017018739.1:c.4260C>T | XP_016874228.1:p.Asn1420= | |
| NM_001206999.2:c.5829C>T MANE Select | NP_001193928.1:p.Asn1943= | |
| NM_007174.3:c.5703C>T | NP_009105.1:p.Asn1901= |