Linked Data
dbSNP Id:
rs745475077
ExAC:
2:21234288 G / T
gnomAD v2:
2-21234288-G-T
gnomAD v4:
2-21011416-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011416G>T , CM000664.2:g.21011416G>T | GRCh38 |
| NC_000002.11:g.21234288G>T , CM000664.1:g.21234288G>T | GRCh37 |
| NC_000002.10:g.21087793G>T | NCBI36 |
| NG_011793.1:g.37658C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4758C>A | ENSP00000501110.2:n.*4758C>A | |
| ENST00000673739.1:c.5166C>A | ENSP00000501110.1:n.5166C>A | |
| ENST00000233242.5:c.5452C>A MANE Select | ENSP00000233242.1:p.Pro1818Thr | |
| ENST00000616098.4:c.5452C>A | ENSP00000477990.1:p.Pro1818Thr | |
| NM_000384.2:c.5452C>A | NP_000375.2:p.Pro1818Thr | |
| XM_011532809.1:c.5452C>A | XP_011531111.1:p.Pro1818Thr | |
| NM_000384.3:c.5452C>A MANE Select | NP_000375.3:p.Pro1818Thr |