Linked Data
ClinVar Variation Id:
12803
ClinVar RCV Id:
RCV000013647
dbSNP Id:
rs104894120
PubMed:
PMID:17200175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124482834A>T , CM000671.2:g.124482834A>T | GRCh38 |
| NC_000009.11:g.127245113A>T , CM000671.1:g.127245113A>T | GRCh37 |
| NC_000009.10:g.126284934A>T | NCBI36 |
| NG_008176.1:g.29587T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.1310T>A MANE Select | ENSP00000362690.4:p.Leu437Gln | |
| ENST00000373587.3:c.662T>A | ENSP00000362689.3:p.Leu221Gln | |
| ENST00000373588.8:c.1310T>A | ENSP00000362690.4:p.Leu437Gln | |
| ENST00000620110.4:c.1190T>A | ENSP00000483309.1:p.Leu397Gln | |
| NM_004959.4:c.1310T>A | NP_004950.2:p.Leu437Gln | |
| XM_005251871.2:c.1310T>A | XP_005251928.1:p.Leu437Gln | |
| XM_005251872.3:c.1049T>A | XP_005251929.1:p.Leu350Gln | |
| XM_011518455.1:c.1310T>A | XP_011516757.1:p.Leu437Gln | |
| NM_004959.5:c.1310T>A MANE Select | NP_004950.2:p.Leu437Gln |