Linked Data
ClinVar Variation Id:
161638
ClinVar RCV Id:
RCV000149174
dbSNP Id:
rs193920808
COSMIC:
COSM1179328
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230910022G>A , CM000664.2:g.230910022G>A | GRCh38 |
| NC_000002.11:g.231774737G>A , CM000664.1:g.231774737G>A | GRCh37 |
| NC_000002.10:g.231482981G>A | NCBI36 |
| NG_050956.1:g.56206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650999.1:c.941C>T MANE Select | ENSP00000498258.1:p.Thr314Ile | |
| ENST00000392039.2:c.941C>T | ENSP00000375893.2:p.Thr314Ile | |
| ENST00000392040.5:c.941C>T | ENSP00000375894.1:p.Thr314Ile | |
| ENST00000444078.5:c.941C>T | ENSP00000410267.1:p.Thr314Ile | |
| ENST00000622008.4:c.941C>T | ENSP00000482381.1:p.Thr314Ile | |
| NM_005683.3:c.941C>T | NP_005674.2:p.Thr314Ile | |
| XM_005246952.2:c.941C>T | XP_005247009.1:p.Thr314Ile | |
| XM_011512175.1:c.941C>T | XP_011510477.1:p.Thr314Ile | |
| XM_011512176.1:c.941C>T | XP_011510478.1:p.Thr314Ile | |
| XM_011512177.1:c.941C>T | XP_011510479.1:p.Thr314Ile | |
| XM_005246952.4:c.941C>T | XP_005247009.1:p.Thr314Ile | |
| XM_011512175.3:c.941C>T | XP_011510477.1:p.Thr314Ile | |
| XM_011512176.2:c.941C>T | XP_011510478.1:p.Thr314Ile | |
| NM_005683.4:c.941C>T MANE Select | NP_005674.2:p.Thr314Ile |