Linked Data
dbSNP Id:
rs2134688
gnomAD v2:
1-150816886-G-A
gnomAD v3:
1-150844410-G-A
gnomAD v4:
1-150844410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150844410G>A , CM000663.2:g.150844410G>A | GRCh38 |
| NC_000001.10:g.150816886G>A , CM000663.1:g.150816886G>A | GRCh37 |
| NC_000001.9:g.149083510G>A | NCBI36 |
| NG_028248.1:g.37359C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358595.10:c.227+1853C>T MANE Select | ENSP00000351407.5:n.227+1853C>T | |
| ENST00000354396.6:c.227+1853C>T | ENSP00000346372.2:n.227+1853C>T | |
| ENST00000358595.9:c.227+1853C>T | ENSP00000351407.5:n.227+1853C>T | |
| ENST00000471844.6:c.227+1853C>T | ENSP00000425899.1:n.227+1853C>T | |
| ENST00000497108.6:n.262+1853C>T | ||
| ENST00000504358.1:c.*182+1853C>T | ENSP00000425363.1:n.*182+1853C>T | |
| ENST00000505755.5:c.227+1853C>T | ENSP00000427571.1:n.227+1853C>T | |
| ENST00000505979.5:n.269+1853C>T | ||
| ENST00000515192.5:c.200+1853C>T | ENSP00000423851.1:n.200+1853C>T | |
| NM_001197325.1:c.227+1853C>T | NP_001184254.1:n.227+1853C>T | |
| NM_001286035.1:c.200+1853C>T | NP_001272964.1:n.200+1853C>T | |
| NM_001286036.1:c.227+1853C>T | NP_001272965.1:n.227+1853C>T | |
| NM_001668.3:c.227+1853C>T | NP_001659.1:n.227+1853C>T | |
| NM_178427.2:c.227+1853C>T | NP_848514.1:n.227+1853C>T | |
| XM_005245151.1:c.227+1853C>T | XP_005245208.1:n.227+1853C>T | |
| XM_005245153.1:c.227+1853C>T | XP_005245210.1:n.227+1853C>T | |
| XM_005245154.2:c.200+1853C>T | XP_005245211.1:n.200+1853C>T | |
| XM_005245157.1:c.227+1853C>T | XP_005245214.1:n.227+1853C>T | |
| XM_011509542.1:c.224+1853C>T | XP_011507844.1:n.224+1853C>T | |
| XM_011509543.1:c.224+1853C>T | XP_011507845.1:n.224+1853C>T | |
| XM_011509544.1:c.221+1853C>T | XP_011507846.1:n.221+1853C>T | |
| XM_011509545.1:c.224+1853C>T | XP_011507847.1:n.224+1853C>T | |
| XM_011509546.1:c.131+1853C>T | XP_011507848.1:n.131+1853C>T | |
| XM_011509547.1:c.224+1853C>T | XP_011507849.1:n.224+1853C>T | |
| NM_001350224.1:c.200+1853C>T | NP_001337153.1:n.200+1853C>T | |
| NM_001350225.1:c.224+1853C>T | NP_001337154.1:n.224+1853C>T | |
| NM_001350226.1:c.221+1853C>T | NP_001337155.1:n.221+1853C>T | |
| XM_005245151.2:c.227+1853C>T | XP_005245208.1:n.227+1853C>T | |
| XM_011509543.3:c.224+1853C>T | XP_011507845.1:n.224+1853C>T | |
| XM_011509545.3:c.224+1853C>T | XP_011507847.1:n.224+1853C>T | |
| XM_011509546.2:c.131+1853C>T | XP_011507848.1:n.131+1853C>T | |
| XM_011509547.2:c.224+1853C>T | XP_011507849.1:n.224+1853C>T | |
| XM_017001288.2:c.200+1853C>T | XP_016856777.1:n.200+1853C>T | |
| XM_017001289.1:c.200+1853C>T | XP_016856778.1:n.200+1853C>T | |
| XM_017001290.2:c.200+1853C>T | XP_016856779.1:n.200+1853C>T | |
| XM_017001291.1:c.200+1853C>T | XP_016856780.1:n.200+1853C>T | |
| XM_017001292.1:c.200+1853C>T | XP_016856781.1:n.200+1853C>T | |
| XM_017001293.1:c.200+1853C>T | XP_016856782.1:n.200+1853C>T | |
| XM_017001294.1:c.227+1853C>T | XP_016856783.1:n.227+1853C>T | |
| XM_017001295.1:c.227+1853C>T | XP_016856784.1:n.227+1853C>T | |
| XM_017001296.1:c.227+1853C>T | XP_016856785.1:n.227+1853C>T | |
| NM_001668.4:c.227+1853C>T MANE Select | NP_001659.1:n.227+1853C>T | |
| NM_001197325.2:c.227+1853C>T | NP_001184254.1:n.227+1853C>T | |
| NM_001286035.2:c.200+1853C>T | NP_001272964.1:n.200+1853C>T | |
| NM_001286036.2:c.227+1853C>T | NP_001272965.1:n.227+1853C>T | |
| NM_001350224.2:c.200+1853C>T | NP_001337153.1:n.200+1853C>T | |
| NM_001350225.2:c.224+1853C>T | NP_001337154.1:n.224+1853C>T | |
| NM_001350226.2:c.221+1853C>T | NP_001337155.1:n.221+1853C>T | |
| NM_178427.3:c.227+1853C>T | NP_848514.1:n.227+1853C>T |