Linked Data
ClinVar Variation Id:
487616
dbSNP Id:
rs148006852
ExAC:
19:49703643 C / T
gnomAD v2:
19-49703643-C-T
gnomAD v3:
19-49200386-C-T
gnomAD v4:
19-49200386-C-T
COSMIC:
COSM999246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49200386C>T , CM000681.2:g.49200386C>T | GRCh38 |
| NC_000019.9:g.49703643C>T , CM000681.1:g.49703643C>T | GRCh37 |
| NC_000019.8:g.54395455C>T | NCBI36 |
| NG_027551.1:g.47628C>T | |
| NG_027551.2:g.47628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.2732C>T MANE Select | ENSP00000252826.4:p.Thr911Met | |
| ENST00000252826.9:c.2732C>T | ENSP00000252826.4:p.Thr911Met | |
| ENST00000427978.6:c.2297C>T | ENSP00000407492.1:p.Thr766Met | |
| ENST00000595071.5:n.1696C>T | ||
| ENST00000595519.5:c.*2142C>T | ENSP00000469893.1:n.*2142C>T | |
| ENST00000596338.5:n.2829C>T | ||
| ENST00000598502.5:c.*1845C>T | ENSP00000470229.1:n.*1845C>T | |
| ENST00000598697.5:c.*1687C>T | ENSP00000468989.1:n.*1687C>T | |
| NM_001195227.1:c.2297C>T | NP_001182156.1:p.Thr766Met | |
| NM_017636.3:c.2732C>T | NP_060106.2:p.Thr911Met | |
| XM_005259017.1:c.1445C>T | XP_005259074.1:p.Thr482Met | |
| XM_005259018.2:c.1124C>T | XP_005259075.1:p.Thr375Met | |
| XM_011527046.1:c.2210C>T | XP_011525348.1:p.Thr737Met | |
| NM_001321281.1:c.2387C>T | NP_001308210.1:p.Thr796Met | |
| NM_001321282.1:c.1124C>T | NP_001308211.1:p.Thr375Met | |
| NM_001321283.1:c.2210C>T | NP_001308212.1:p.Thr737Met | |
| NM_001321285.1:c.1670C>T | NP_001308214.1:p.Thr557Met | |
| XM_024451557.1:c.758C>T | XP_024307325.1:p.Thr253Met | |
| NM_017636.4:c.2732C>T MANE Select | NP_060106.2:p.Thr911Met | |
| NM_001195227.2:c.2297C>T | NP_001182156.1:p.Thr766Met | |
| NM_001321281.2:c.2387C>T | NP_001308210.1:p.Thr796Met | |
| NM_001321282.2:c.1124C>T | NP_001308211.1:p.Thr375Met | |
| NM_001321283.2:c.2210C>T | NP_001308212.1:p.Thr737Met | |
| NM_001321285.2:c.1670C>T | NP_001308214.1:p.Thr557Met |