Linked Data
dbSNP Id:
rs539493212
gnomAD v2:
5-11320458-T-A
gnomAD v3:
5-11320346-T-A
gnomAD v4:
5-11320346-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11320346T>A , CM000667.2:g.11320346T>A | GRCh38 |
| NC_000005.9:g.11320458T>A , CM000667.1:g.11320458T>A | GRCh37 |
| NC_000005.8:g.11373458T>A | NCBI36 |
| NG_023544.1:g.588653A>T | |
| NG_023544.2:g.588653A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706271.1:c.617+26026A>T | ENSP00000516315.1:n.617+26026A>T | |
| ENST00000706272.1:c.700+26026A>T | ||
| ENST00000304623.13:c.1628+26026A>T MANE Select | ENSP00000307134.8:n.1628+26026A>T | |
| ENST00000304623.12:c.1628+26026A>T | ENSP00000307134.8:n.1628+26026A>T | |
| ENST00000495388.6:n.713+26026A>T | ||
| ENST00000503622.5:c.617+26026A>T | ENSP00000426887.1:n.617+26026A>T | |
| ENST00000504499.5:c.*367+26026A>T | ENSP00000421000.1:n.*367+26026A>T | |
| ENST00000511377.5:c.1355+26026A>T | ENSP00000426510.1:n.1355+26026A>T | |
| ENST00000513588.5:c.890+26026A>T | ENSP00000421093.1:n.890+26026A>T | |
| NM_001288715.1:c.1355+26026A>T | NP_001275644.1:n.1355+26026A>T | |
| NM_001288716.1:c.617+26026A>T | NP_001275645.1:n.617+26026A>T | |
| NM_001288717.1:c.329+26026A>T | NP_001275646.1:n.329+26026A>T | |
| NM_001332.3:c.1628+26026A>T | NP_001323.1:n.1628+26026A>T | |
| NR_109988.1:n.1080+26026A>T | ||
| XM_005248251.2:c.1628+26026A>T | XP_005248308.1:n.1628+26026A>T | |
| XM_005248252.1:c.1586+26026A>T | XP_005248309.1:n.1586+26026A>T | |
| XM_005248253.1:c.1355+26026A>T | XP_005248310.1:n.1355+26026A>T | |
| XM_011513967.1:c.1355+26026A>T | XP_011512269.1:n.1355+26026A>T | |
| NM_001364128.1:c.617+26026A>T | NP_001351057.1:n.617+26026A>T | |
| XM_005248251.3:c.1628+26026A>T | XP_005248308.1:n.1628+26026A>T | |
| XM_005248252.2:c.1586+26026A>T | XP_005248309.1:n.1586+26026A>T | |
| XM_011513967.2:c.1355+26026A>T | XP_011512269.1:n.1355+26026A>T | |
| XM_017009072.1:c.890+26026A>T | XP_016864561.1:n.890+26026A>T | |
| XM_017009073.1:c.848+26026A>T | XP_016864562.1:n.848+26026A>T | |
| XM_017009074.1:c.890+26026A>T | XP_016864563.1:n.890+26026A>T | |
| XM_017009075.2:c.617+26026A>T | XP_016864564.1:n.617+26026A>T | |
| XM_024454368.1:c.-44+44350A>T | XP_024310136.1:n.-44+44350A>T | |
| NM_001332.4:c.1628+26026A>T MANE Select | NP_001323.1:n.1628+26026A>T | |
| NM_001288717.2:c.329+26026A>T | NP_001275646.1:n.329+26026A>T | |
| NR_109988.2:n.1483+26026A>T | ||
| NM_001364128.2:c.617+26026A>T | NP_001351057.1:n.617+26026A>T |