Linked Data
ClinVar Variation Id:
4332
ClinVar RCV Id:
RCV000004578
dbSNP Id:
rs121908314
PubMed:
PMID:14994233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235841G>C , CM000663.2:g.155235841G>C | GRCh38 |
| NC_000001.10:g.155205632G>C , CM000663.1:g.155205632G>C | GRCh37 |
| NC_000001.9:g.153472256G>C | NCBI36 |
| NG_009783.1:g.13857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1228C>G MANE Select | ENSP00000357357.3:p.Leu410Val | |
| ENST00000327247.9:c.1228C>G | ENSP00000314508.5:p.Leu410Val | |
| ENST00000368373.7:c.1228C>G | ENSP00000357357.3:p.Leu410Val | |
| ENST00000427500.7:c.1081C>G | ENSP00000402577.2:p.Leu361Val | |
| ENST00000428024.3:c.967C>G | ENSP00000397986.2:p.Leu323Val | |
| ENST00000478472.1:n.219C>G | ||
| ENST00000484489.5:n.387C>G | ||
| NM_000157.3:c.1228C>G | NP_000148.2:p.Leu410Val | |
| NM_001005741.2:c.1228C>G | NP_001005741.1:p.Leu410Val | |
| NM_001005742.2:c.1228C>G | NP_001005742.1:p.Leu410Val | |
| NM_001171811.1:c.967C>G | NP_001165282.1:p.Leu323Val | |
| NM_001171812.1:c.1081C>G | NP_001165283.1:p.Leu361Val | |
| XM_006711270.1:c.1228C>G | XP_006711333.1:p.Leu410Val | |
| XM_011509407.1:c.1228C>G | XP_011507709.1:p.Leu410Val | |
| NM_000157.4:c.1228C>G MANE Select | NP_000148.2:p.Leu410Val | |
| NM_001005741.3:c.1228C>G | NP_001005741.1:p.Leu410Val | |
| NM_001005742.3:c.1228C>G | NP_001005742.1:p.Leu410Val | |
| NM_001171811.2:c.967C>G | NP_001165282.1:p.Leu323Val | |
| NM_001171812.2:c.1081C>G | NP_001165283.1:p.Leu361Val |