Linked Data
dbSNP Id:
rs775399769
ExAC:
5:135391466 G / T
gnomAD v2:
5-135391466-G-T
gnomAD v3:
5-136055777-G-T
gnomAD v4:
5-136055777-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055777G>T , CM000667.2:g.136055777G>T | GRCh38 |
| NC_000005.9:g.135391466G>T , CM000667.1:g.135391466G>T | GRCh37 |
| NC_000005.8:g.135419365G>T | NCBI36 |
| NG_012646.1:g.31883G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1508G>T MANE Select | ENSP00000416330.2:p.Gly503Val | |
| ENST00000442011.6:c.1508G>T | ENSP00000416330.2:p.Gly503Val | |
| ENST00000506699.5:n.2025G>T | ||
| ENST00000507018.5:c.1486G>T | ||
| ENST00000509485.5:c.423G>T | ||
| ENST00000514242.5:n.279G>T | ||
| ENST00000514554.5:c.660G>T | ||
| NM_000358.2:c.1508G>T | NP_000349.1:p.Gly503Val | |
| NM_000358.3:c.1508G>T MANE Select | NP_000349.1:p.Gly503Val |