Linked Data
ClinVar Variation Id:
1080663
dbSNP Id:
rs149063473
ExAC:
4:119652658 G / A
gnomAD v2:
4-119652658-G-A
gnomAD v3:
4-118731503-G-A
gnomAD v4:
4-118731503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118731503G>A , CM000666.2:g.118731503G>A | GRCh38 |
| NC_000004.11:g.119652658G>A , CM000666.1:g.119652658G>A | GRCh37 |
| NC_000004.10:g.119872106G>A | NCBI36 |
| NG_042032.1:g.109669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2681C>T MANE Select | ENSP00000280551.6:p.Thr894Met | |
| ENST00000280551.10:c.2681C>T | ENSP00000280551.6:p.Thr894Met | |
| ENST00000505134.5:n.2812C>T | ||
| ENST00000511481.5:c.1574C>T | ENSP00000425491.1:p.Thr525Met | |
| ENST00000511715.1:n.588C>T | ||
| NM_014822.2:c.2681C>T | NP_055637.2:p.Thr894Met | |
| XM_005263378.1:c.2684C>T | XP_005263435.1:p.Thr895Met | |
| XM_005263379.1:c.2684C>T | XP_005263436.1:p.Thr895Met | |
| XM_011532435.1:c.2684C>T | XP_011530737.1:p.Thr895Met | |
| XM_011532437.1:c.1349C>T | XP_011530739.1:p.Thr450Met | |
| NM_001318066.1:c.2684C>T | NP_001304995.1:p.Thr895Met | |
| NM_014822.3:c.2681C>T | NP_055637.2:p.Thr894Met | |
| XM_005263379.3:c.2684C>T | XP_005263436.1:p.Thr895Met | |
| XM_017008875.1:c.1349C>T | XP_016864364.1:p.Thr450Met | |
| XM_024454293.1:c.2681C>T | XP_024310061.1:p.Thr894Met | |
| NM_014822.4:c.2681C>T MANE Select | NP_055637.2:p.Thr894Met | |
| NM_001318066.2:c.2684C>T | NP_001304995.1:p.Thr895Met |