Linked Data
ClinVar Variation Id:
449213
dbSNP Id:
rs140746746
ExAC:
1:236148787 G / T
gnomAD v2:
1-236148787-G-T
gnomAD v3:
1-235985487-G-T
gnomAD v4:
1-235985487-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235985487G>T , CM000663.2:g.235985487G>T | GRCh38 |
| NC_000001.10:g.236148787G>T , CM000663.1:g.236148787G>T | GRCh37 |
| NC_000001.9:g.234215410G>T | NCBI36 |
| NG_033228.1:g.84695C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264187.7:c.2947C>A MANE Select | ENSP00000264187.6:p.Leu983Met | |
| ENST00000264187.6:c.2947C>A | ENSP00000264187.6:p.Leu983Met | |
| ENST00000366595.7:c.2548C>A | ENSP00000355554.3:p.Leu850Met | |
| NM_002508.2:c.2947C>A | NP_002499.2:p.Leu983Met | |
| XM_011544195.1:c.2821C>A | XP_011542497.1:p.Leu941Met | |
| XM_011544195.3:c.2821C>A | XP_011542497.1:p.Leu941Met | |
| NM_002508.3:c.2947C>A MANE Select | NP_002499.2:p.Leu983Met |