Linked Data
dbSNP Id:
rs774265180
ExAC:
9:104187812 G / A
gnomAD v2:
9-104187812-G-A
gnomAD v4:
9-101425530-G-A
COSMIC:
COSM5998294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425530G>A , CM000671.2:g.101425530G>A | GRCh38 |
| NC_000009.11:g.104187812G>A , CM000671.1:g.104187812G>A | GRCh37 |
| NC_000009.10:g.103227633G>A | NCBI36 |
| NG_012387.1:g.15251C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.722C>T MANE Select | ENSP00000497767.1:p.Thr241Ile | |
| ENST00000648064.1:c.722C>T | ENSP00000497990.1:p.Thr241Ile | |
| ENST00000648758.1:c.722C>T | ENSP00000497731.1:p.Thr241Ile | |
| ENST00000649902.1:c.722C>T | ENSP00000497216.1:p.Thr241Ile | |
| ENST00000374855.8:c.722C>T | ENSP00000363988.4:p.Thr241Ile | |
| ENST00000616752.1:c.722C>T | ENSP00000481363.1:p.Thr241Ile | |
| NM_000035.3:c.722C>T | NP_000026.2:p.Thr241Ile | |
| NM_000035.4:c.722C>T MANE Select | NP_000026.2:p.Thr241Ile |