Linked Data
ClinVar Variation Id:
4324
ClinVar RCV Id:
RCV000004568
dbSNP Id:
rs74598136
COSMIC:
COSM3474893
PubMed:
PMID:10340647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235750G>A , CM000663.2:g.155235750G>A | GRCh38 |
| NC_000001.10:g.155205541G>A , CM000663.1:g.155205541G>A | GRCh37 |
| NC_000001.9:g.153472165G>A | NCBI36 |
| NG_009783.1:g.13948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1319C>T MANE Select | ENSP00000357357.3:p.Pro440Leu | |
| ENST00000327247.9:c.1319C>T | ENSP00000314508.5:p.Pro440Leu | |
| ENST00000368373.7:c.1319C>T | ENSP00000357357.3:p.Pro440Leu | |
| ENST00000427500.7:c.1172C>T | ENSP00000402577.2:p.Pro391Leu | |
| ENST00000428024.3:c.1058C>T | ENSP00000397986.2:p.Pro353Leu | |
| ENST00000464536.1:n.86C>T | ||
| ENST00000478472.1:n.310C>T | ||
| ENST00000484489.5:n.478C>T | ||
| NM_000157.3:c.1319C>T | NP_000148.2:p.Pro440Leu | |
| NM_001005741.2:c.1319C>T | NP_001005741.1:p.Pro440Leu | |
| NM_001005742.2:c.1319C>T | NP_001005742.1:p.Pro440Leu | |
| NM_001171811.1:c.1058C>T | NP_001165282.1:p.Pro353Leu | |
| NM_001171812.1:c.1172C>T | NP_001165283.1:p.Pro391Leu | |
| XM_006711270.1:c.1319C>T | XP_006711333.1:p.Pro440Leu | |
| XM_011509407.1:c.1319C>T | XP_011507709.1:p.Pro440Leu | |
| NM_000157.4:c.1319C>T MANE Select | NP_000148.2:p.Pro440Leu | |
| NM_001005741.3:c.1319C>T | NP_001005741.1:p.Pro440Leu | |
| NM_001005742.3:c.1319C>T | NP_001005742.1:p.Pro440Leu | |
| NM_001171811.2:c.1058C>T | NP_001165282.1:p.Pro353Leu | |
| NM_001171812.2:c.1172C>T | NP_001165283.1:p.Pro391Leu |