Linked Data
dbSNP Id:
rs1384370014
gnomAD v2:
2-38302357-G-C
gnomAD v3:
2-38075214-G-C
gnomAD v4:
2-38075214-G-C
COSMIC:
COSM3991297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075214G>C , CM000664.2:g.38075214G>C | GRCh38 |
| NC_000002.11:g.38302357G>C , CM000664.1:g.38302357G>C | GRCh37 |
| NC_000002.10:g.38155861G>C | NCBI36 |
| NG_008386.2:g.5888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.175C>G | ENSP00000478839.2:p.Leu59Val | |
| ENST00000610745.5:c.175C>G MANE Select | ENSP00000478561.1:p.Leu59Val | |
| ENST00000490576.1:c.175C>G | ENSP00000478839.1:p.Leu59Val | |
| ENST00000494864.1:c.-70-3904C>G | ENSP00000479876.1:n.-70-3904C>G | |
| ENST00000610745.4:c.175C>G | ENSP00000478561.1:p.Leu59Val | |
| ENST00000613082.1:n.375+566C>G | ||
| ENST00000614273.1:c.175C>G | ENSP00000483678.1:p.Leu59Val | |
| NM_000104.3:c.175C>G | NP_000095.2:p.Leu59Val | |
| NM_000104.4:c.175C>G MANE Select | NP_000095.2:p.Leu59Val |