Linked Data
dbSNP Id:
rs1267270290
gnomAD v2:
11-67803723-A-G
gnomAD v3:
11-68036256-A-G
gnomAD v4:
11-68036256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036256A>G , CM000673.2:g.68036256A>G | GRCh38 |
| NC_000011.9:g.67803723A>G , CM000673.1:g.67803723A>G | GRCh37 |
| NC_000011.8:g.67560299A>G | NCBI36 |
| NG_007878.1:g.2241A>G , LRG_115:g.2241A>G | |
| NG_017040.1:g.10640A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.376A>G MANE Select | ENSP00000315774.5:p.Ile126Val | |
| ENST00000313468.9:c.376A>G | ENSP00000315774.5:p.Ile126Val | |
| ENST00000524810.5:c.308A>G | ||
| ENST00000525419.5:c.322A>G | ENSP00000433521.1:p.Ile108Val | |
| ENST00000526339.5:c.376A>G | ENSP00000436287.1:p.Ile126Val | |
| ENST00000526446.5:c.*431A>G | ENSP00000433645.1:n.*431A>G | |
| ENST00000526542.1:n.327A>G | ||
| ENST00000528492.1:c.-63A>G | ENSP00000432848.1:n.-63A>G | |
| ENST00000531282.1:n.228A>G | ||
| NM_002496.3:c.376A>G | NP_002487.1:p.Ile126Val | |
| XM_005274013.1:c.376A>G | XP_005274070.1:p.Ile126Val | |
| XM_005274014.1:c.376A>G | XP_005274071.1:p.Ile126Val | |
| XM_005274015.1:c.256A>G | XP_005274072.1:p.Ile86Val | |
| XM_011545053.1:c.376A>G | XP_011543355.1:p.Ile126Val | |
| NM_002496.4:c.376A>G MANE Select | NP_002487.1:p.Ile126Val |