Linked Data
ClinVar Variation Id:
161114
dbSNP Id:
rs606231422
gnomAD v4:
2-203870684-C-T
PubMed:
PMID:25329329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203870684C>T , CM000664.2:g.203870684C>T | GRCh38 |
| NC_000002.11:g.204735407C>T , CM000664.1:g.204735407C>T | GRCh37 |
| NC_000002.10:g.204443652C>T | NCBI36 |
| NG_011502.1:g.7899C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696049.1:c.208C>T | ENSP00000512353.1:p.Arg70Trp | |
| ENST00000696479.1:c.280C>T | ENSP00000512655.1:p.Arg94Trp | |
| ENST00000427473.3:n.242C>T | ||
| ENST00000648405.2:c.208C>T MANE Select | ENSP00000497102.1:p.Arg70Trp | |
| ENST00000650075.1:n.232C>T | ||
| ENST00000295854.10:c.208C>T | ENSP00000295854.6:p.Arg70Trp | |
| ENST00000302823.7:c.208C>T | ENSP00000303939.3:p.Arg70Trp | |
| ENST00000427473.2:c.97C>T | ENSP00000409707.2:p.Arg33Trp | |
| ENST00000472206.1:c.172+36C>T | ENSP00000417779.1:n.172+36C>T | |
| ENST00000487393.1:n.110-2024C>T | ||
| NM_001037631.2:c.208C>T | NP_001032720.1:p.Arg70Trp | |
| NM_005214.4:c.208C>T | NP_005205.2:p.Arg70Trp | |
| XR_241294.1:n.348C>T | ||
| NM_001037631.3:c.208C>T | NP_001032720.1:p.Arg70Trp | |
| NM_005214.5:c.208C>T MANE Select | NP_005205.2:p.Arg70Trp |