Linked Data
dbSNP Id:
rs368617511
ExAC:
4:178360750 G / T
gnomAD v2:
4-178360750-G-T
gnomAD v3:
4-177439596-G-T
gnomAD v4:
4-177439596-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439596G>T , CM000666.2:g.177439596G>T | GRCh38 |
| NC_000004.11:g.178360750G>T , CM000666.1:g.178360750G>T | GRCh37 |
| NC_000004.10:g.178597744G>T | NCBI36 |
| NG_011845.2:g.7908C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.374C>A MANE Select | ENSP00000264595.2:p.Thr125Lys | |
| ENST00000264595.6:c.374C>A | ENSP00000264595.2:p.Thr125Lys | |
| ENST00000502310.5:c.29C>A | ENSP00000423798.1:p.Thr10Lys | |
| ENST00000506853.5:n.408C>A | ||
| ENST00000510635.1:c.70C>A | ||
| ENST00000510955.5:n.315+677C>A | ||
| NM_000027.3:c.374C>A | NP_000018.2:p.Thr125Lys | |
| NM_001171988.1:c.374C>A | NP_001165459.1:p.Thr125Lys | |
| NR_033655.1:n.502C>A | ||
| XM_006714123.2:c.374C>A | XP_006714186.1:p.Thr125Lys | |
| XR_001741155.2:n.468C>A | ||
| NM_000027.4:c.374C>A MANE Select | NP_000018.2:p.Thr125Lys | |
| NM_001171988.2:c.374C>A | NP_001165459.1:p.Thr125Lys | |
| NR_033655.2:n.436C>A |