Linked Data
dbSNP Id:
rs755850909
ExAC:
2:209191114 G / A
gnomAD v2:
2-209191114-G-A
gnomAD v3:
2-208326390-G-A
gnomAD v4:
2-208326390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208326390G>A , CM000664.2:g.208326390G>A | GRCh38 |
| NC_000002.11:g.209191114G>A , CM000664.1:g.209191114G>A | GRCh37 |
| NC_000002.10:g.208899359G>A | NCBI36 |
| NG_021188.1:g.65124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.3579G>A MANE Select | ENSP00000264380.4:p.Glu1193= | |
| ENST00000264380.8:c.3579G>A | ENSP00000264380.4:p.Glu1193= | |
| ENST00000452564.1:c.3411G>A | ENSP00000405736.1:p.Glu1137= | |
| NM_015040.3:c.3579G>A | NP_055855.2:p.Glu1193= | |
| XM_011510778.1:c.3615G>A | XP_011509080.1:p.Glu1205= | |
| XM_011510779.1:c.3615G>A | XP_011509081.1:p.Glu1205= | |
| XM_011510780.1:c.3612G>A | XP_011509082.1:p.Glu1204= | |
| XM_011510781.1:c.3597G>A | XP_011509083.1:p.Glu1199= | |
| XM_011510782.1:c.3615G>A | XP_011509084.1:p.Glu1205= | |
| XM_011510783.1:c.3447G>A | XP_011509085.1:p.Glu1149= | |
| XM_011510784.1:c.3444G>A | XP_011509086.1:p.Glu1148= | |
| XM_011510785.1:c.3429G>A | XP_011509087.1:p.Glu1143= | |
| XM_011510786.1:c.3324G>A | XP_011509088.1:p.Glu1108= | |
| XM_011510787.1:c.3321G>A | XP_011509089.1:p.Glu1107= | |
| XM_011510788.1:c.3288G>A | XP_011509090.1:p.Glu1096= | |
| XM_011510789.1:c.3138G>A | XP_011509091.1:p.Glu1046= | |
| XM_011510790.1:c.2622G>A | XP_011509092.1:p.Glu874= | |
| XM_011510791.1:c.2622G>A | XP_011509093.1:p.Glu874= | |
| XM_011510792.1:c.3615G>A | XP_011509094.1:p.Glu1205= | |
| XR_922888.1:n.3752G>A | ||
| XM_011510778.3:c.3615G>A | XP_011509080.1:p.Glu1205= | |
| XM_011510779.2:c.3615G>A | XP_011509081.1:p.Glu1205= | |
| XM_011510780.2:c.3612G>A | XP_011509082.1:p.Glu1204= | |
| XM_011510781.3:c.3597G>A | XP_011509083.1:p.Glu1199= | |
| XM_011510782.3:c.3615G>A | XP_011509084.1:p.Glu1205= | |
| XM_011510783.3:c.3447G>A | XP_011509085.1:p.Glu1149= | |
| XM_011510784.2:c.3444G>A | XP_011509086.1:p.Glu1148= | |
| XM_011510785.3:c.3429G>A | XP_011509087.1:p.Glu1143= | |
| XM_011510786.3:c.3324G>A | XP_011509088.1:p.Glu1108= | |
| XM_011510789.2:c.3138G>A | XP_011509091.1:p.Glu1046= | |
| XM_011510792.3:c.3615G>A | XP_011509094.1:p.Glu1205= | |
| XM_017003568.1:c.3561G>A | XP_016859057.1:p.Glu1187= | |
| XM_017003569.1:c.3393G>A | XP_016859058.1:p.Glu1131= | |
| XM_017003570.1:c.3120G>A | XP_016859059.1:p.Glu1040= | |
| XM_017003571.1:c.2970G>A | XP_016859060.1:p.Glu990= | |
| XM_017003572.1:c.2622G>A | XP_016859061.1:p.Glu874= | |
| XM_017003573.1:c.2622G>A | XP_016859062.1:p.Glu874= | |
| XM_017003574.1:c.2622G>A | XP_016859063.1:p.Glu874= | |
| NM_015040.4:c.3579G>A MANE Select | NP_055855.2:p.Glu1193= |