Linked Data
ClinVar Variation Id:
2477041
ClinVar RCV Id:
RCV004267315
dbSNP Id:
rs1216183743
gnomAD v3:
14-23055061-A-C
gnomAD v4:
14-23055061-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23055061A>C , CM000676.2:g.23055061A>C | GRCh38 |
| NC_000014.8:g.23524270A>C , CM000676.1:g.23524270A>C | GRCh37 |
| NC_000014.7:g.22594110A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487137.7:c.494T>G MANE Select | ENSP00000434821.2:p.Val165Gly | |
| ENST00000267383.5:c.494T>G | ENSP00000267383.5:p.Val165Gly | |
| ENST00000397359.7:c.494T>G | ENSP00000380517.3:p.Val165Gly | |
| ENST00000487137.6:c.494T>G | ENSP00000434821.2:p.Val165Gly | |
| ENST00000554034.5:c.494T>G | ENSP00000452493.1:p.Val165Gly | |
| ENST00000610348.1:c.417+77T>G | ENSP00000478078.1:n.417+77T>G | |
| NM_022478.3:c.494T>G | NP_071923.2:p.Val165Gly | |
| NM_144985.3:c.494T>G | NP_659422.2:p.Val165Gly | |
| XM_011537088.1:c.494T>G | XP_011535390.1:p.Val165Gly | |
| XM_011537089.1:c.494T>G | XP_011535391.1:p.Val165Gly | |
| XM_011537090.1:c.494T>G | XP_011535392.1:p.Val165Gly | |
| NM_022478.4:c.494T>G | NP_071923.2:p.Val165Gly | |
| NM_144985.4:c.494T>G MANE Select | NP_659422.2:p.Val165Gly |