Linked Data
dbSNP Id:
rs771100656
ExAC:
7:87174264 C / T
gnomAD v2:
7-87174264-C-T
gnomAD v4:
7-87544948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87544948C>T , CM000669.2:g.87544948C>T | GRCh38 |
| NC_000007.13:g.87174264C>T , CM000669.1:g.87174264C>T | GRCh37 |
| NC_000007.12:g.87012200C>T | NCBI36 |
| NG_011513.1:g.173301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1939G>A | ENSP00000265724.3:p.Glu647Lys | |
| ENST00000622132.5:c.1939G>A MANE Select | ENSP00000478255.1:p.Glu647Lys | |
| ENST00000265724.7:c.1939G>A | ENSP00000265724.3:p.Glu647Lys | |
| ENST00000543898.5:c.1747G>A | ENSP00000444095.1:p.Glu583Lys | |
| ENST00000622132.4:c.1939G>A | ENSP00000478255.1:p.Glu647Lys | |
| NM_000927.4:c.1939G>A | NP_000918.2:p.Glu647Lys | |
| NM_001348944.1:c.1939G>A | NP_001335873.1:p.Glu647Lys | |
| NM_001348945.1:c.2149G>A | NP_001335874.1:p.Glu717Lys | |
| NM_001348946.1:c.1939G>A | NP_001335875.1:p.Glu647Lys | |
| NM_001348946.2:c.1939G>A MANE Select | NP_001335875.1:p.Glu647Lys | |
| NM_000927.5:c.1939G>A | NP_000918.2:p.Glu647Lys | |
| NM_001348944.2:c.1939G>A | NP_001335873.1:p.Glu647Lys | |
| NM_001348945.2:c.2149G>A | NP_001335874.1:p.Glu717Lys |