Linked Data
dbSNP Id:
rs11688
ExAC:
1:59247993 C / T
gnomAD v2:
1-59247993-C-T
gnomAD v3:
1-58782321-C-T
gnomAD v4:
1-58782321-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782321C>T , CM000663.2:g.58782321C>T | GRCh38 |
| NC_000001.10:g.59247993C>T , CM000663.1:g.59247993C>T | GRCh37 |
| NC_000001.9:g.59020581C>T | NCBI36 |
| NG_047027.1:g.6793G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710273.1:c.816G>A | ENSP00000518166.1:p.Gln272= | |
| ENST00000371222.4:c.750G>A MANE Select | ENSP00000360266.2:p.Gln250= | |
| ENST00000678696.1:c.750G>A | ENSP00000503132.1:p.Gln250= | |
| ENST00000371222.3:c.750G>A | ENSP00000360266.2:p.Gln250= | |
| NM_002228.3:c.750G>A | NP_002219.1:p.Gln250= | |
| NM_002228.4:c.750G>A MANE Select | NP_002219.1:p.Gln250= |