Linked Data
dbSNP Id:
rs758552647
ExAC:
11:62763512 G / T
gnomAD v2:
11-62763512-G-T
gnomAD v4:
11-62996040-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62996040G>T , CM000673.2:g.62996040G>T | GRCh38 |
| NC_000011.9:g.62763512G>T , CM000673.1:g.62763512G>T | GRCh37 |
| NC_000011.8:g.62520088G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.874C>A MANE Select | ENSP00000337335.2:p.Leu292Ile | |
| ENST00000311438.12:c.874C>A | ENSP00000311463.8:p.Leu292Ile | |
| ENST00000336232.6:c.874C>A | ENSP00000337335.2:p.Leu292Ile | |
| ENST00000430500.6:c.874C>A | ENSP00000398548.2:p.Leu292Ile | |
| ENST00000535878.5:c.505C>A | ENSP00000443368.1:p.Leu169Ile | |
| ENST00000539841.1:n.692C>A | ||
| ENST00000545207.5:c.601C>A | ENSP00000441658.1:p.Leu201Ile | |
| NM_001184732.1:c.874C>A | NP_001171661.1:p.Leu292Ile | |
| NM_001184733.1:c.601C>A | NP_001171662.1:p.Leu201Ile | |
| NM_001184736.1:c.505C>A | NP_001171665.1:p.Leu169Ile | |
| NM_004254.3:c.874C>A | NP_004245.2:p.Leu292Ile | |
| XM_011545364.1:c.505C>A | XP_011543666.1:p.Leu169Ile | |
| NM_004254.4:c.874C>A MANE Select | NP_004245.2:p.Leu292Ile | |
| NM_001184732.2:c.874C>A | NP_001171661.1:p.Leu292Ile | |
| NM_001184733.2:c.601C>A | NP_001171662.1:p.Leu201Ile | |
| NM_001184736.2:c.505C>A | NP_001171665.1:p.Leu169Ile |