Linked Data
ClinVar Variation Id:
290116
dbSNP Id:
rs34387018
ExAC:
2:71766311 C / A
gnomAD v2:
2-71766311-C-A
gnomAD v3:
2-71539181-C-A
gnomAD v4:
2-71539181-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71539181C>A , CM000664.2:g.71539181C>A | GRCh38 |
| NC_000002.11:g.71766311C>A , CM000664.1:g.71766311C>A | GRCh37 |
| NC_000002.10:g.71619819C>A | NCBI36 |
| NG_008694.1:g.90559C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.1422C>A MANE Plus Clinical | ENSP00000258104.3:p.Ile474= | |
| ENST00000410020.8:c.1518C>A MANE Select | ENSP00000386881.3:p.Ile506= | |
| ENST00000258104.7:c.1422C>A | ENSP00000258104.3:p.Ile474= | |
| ENST00000394120.6:c.1425C>A | ENSP00000377678.2:p.Ile475= | |
| ENST00000409366.5:c.1425C>A | ENSP00000386512.1:p.Ile475= | |
| ENST00000409582.7:c.1515C>A | ENSP00000386547.3:p.Ile505= | |
| ENST00000409651.5:c.1518C>A | ENSP00000386683.1:p.Ile506= | |
| ENST00000409744.5:c.1425C>A | ENSP00000386285.1:p.Ile475= | |
| ENST00000409762.5:c.1515C>A | ENSP00000387137.1:p.Ile505= | |
| ENST00000410020.7:c.1518C>A | ENSP00000386881.3:p.Ile506= | |
| ENST00000410041.1:c.1518C>A | ENSP00000386617.1:p.Ile506= | |
| ENST00000413539.6:c.1515C>A | ENSP00000407046.2:p.Ile505= | |
| ENST00000429174.6:c.1422C>A | ENSP00000398305.2:p.Ile474= | |
| NM_001130455.1:c.1425C>A | NP_001123927.1:p.Ile475= | |
| NM_001130976.1:c.1422C>A | NP_001124448.1:p.Ile474= | |
| NM_001130977.1:c.1422C>A | NP_001124449.1:p.Ile474= | |
| NM_001130978.1:c.1422C>A | NP_001124450.1:p.Ile474= | |
| NM_001130979.1:c.1515C>A | NP_001124451.1:p.Ile505= | |
| NM_001130980.1:c.1515C>A | NP_001124452.1:p.Ile505= | |
| NM_001130981.1:c.1515C>A | NP_001124453.1:p.Ile505= | |
| NM_001130982.1:c.1518C>A | NP_001124454.1:p.Ile506= | |
| NM_001130983.1:c.1425C>A | NP_001124455.1:p.Ile475= | |
| NM_001130984.1:c.1425C>A | NP_001124456.1:p.Ile475= | |
| NM_001130985.1:c.1518C>A | NP_001124457.1:p.Ile506= | |
| NM_001130986.1:c.1425C>A | NP_001124458.1:p.Ile475= | |
| NM_001130987.1:c.1518C>A | NP_001124459.1:p.Ile506= | |
| NM_003494.3:c.1422C>A | NP_003485.1:p.Ile474= | |
| XM_005264584.3:c.1518C>A | XP_005264641.1:p.Ile506= | |
| XM_005264585.3:c.1515C>A | XP_005264642.1:p.Ile505= | |
| XM_005264584.4:c.1518C>A | XP_005264641.1:p.Ile506= | |
| XM_005264585.5:c.1515C>A | XP_005264642.1:p.Ile505= | |
| XR_001738969.1:n.1676C>A | ||
| NM_001130987.2:c.1518C>A MANE Select | NP_001124459.1:p.Ile506= | |
| NM_001130455.2:c.1425C>A | NP_001123927.1:p.Ile475= | |
| NM_001130976.2:c.1422C>A | NP_001124448.1:p.Ile474= | |
| NM_001130977.2:c.1422C>A | NP_001124449.1:p.Ile474= | |
| NM_001130978.2:c.1422C>A | NP_001124450.1:p.Ile474= | |
| NM_001130979.2:c.1515C>A | NP_001124451.1:p.Ile505= | |
| NM_001130980.2:c.1515C>A | NP_001124452.1:p.Ile505= | |
| NM_001130981.2:c.1515C>A | NP_001124453.1:p.Ile505= | |
| NM_001130982.2:c.1518C>A | NP_001124454.1:p.Ile506= | |
| NM_001130983.2:c.1425C>A | NP_001124455.1:p.Ile475= | |
| NM_001130984.2:c.1425C>A | NP_001124456.1:p.Ile475= | |
| NM_001130985.2:c.1518C>A | NP_001124457.1:p.Ile506= | |
| NM_001130986.2:c.1425C>A | NP_001124458.1:p.Ile475= | |
| NM_003494.4:c.1422C>A MANE Plus Clinical | NP_003485.1:p.Ile474= |