Linked Data
ClinVar Variation Id:
2060563
ClinVar RCV Id:
RCV002947813
dbSNP Id:
rs991950983
gnomAD v4:
4-177438798-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438798G>T , CM000666.2:g.177438798G>T | GRCh38 |
| NC_000004.11:g.178359952G>T , CM000666.1:g.178359952G>T | GRCh37 |
| NC_000004.10:g.178596946G>T | NCBI36 |
| NG_011845.2:g.8706C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.454C>A MANE Select | ENSP00000264595.2:p.Gln152Lys | |
| ENST00000264595.6:c.454C>A | ENSP00000264595.2:p.Gln152Lys | |
| ENST00000502310.5:c.109C>A | ENSP00000423798.1:p.Gln37Lys | |
| ENST00000506853.5:n.488C>A | ||
| ENST00000510635.1:c.150C>A | ||
| ENST00000510955.5:n.375C>A | ||
| NM_000027.3:c.454C>A | NP_000018.2:p.Gln152Lys | |
| NM_001171988.1:c.454C>A | NP_001165459.1:p.Gln152Lys | |
| NR_033655.1:n.582C>A | ||
| XM_006714123.2:c.454C>A | XP_006714186.1:p.Gln152Lys | |
| XR_001741155.2:n.548C>A | ||
| NM_000027.4:c.454C>A MANE Select | NP_000018.2:p.Gln152Lys | |
| NM_001171988.2:c.454C>A | NP_001165459.1:p.Gln152Lys | |
| NR_033655.2:n.516C>A |