Linked Data
ClinVar Variation Id:
222
ClinVar RCV Id:
RCV000000246
dbSNP Id:
rs121964907
gnomAD v4:
4-177440375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177440375C>T , CM000666.2:g.177440375C>T | GRCh38 |
| NC_000004.11:g.178361529C>T , CM000666.1:g.178361529C>T | GRCh37 |
| NC_000004.10:g.178598523C>T | NCBI36 |
| NG_011845.2:g.7129G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.179G>A MANE Select | ENSP00000264595.2:p.Gly60Asp | |
| ENST00000264595.6:c.179G>A | ENSP00000264595.2:p.Gly60Asp | |
| ENST00000506853.5:n.213G>A | ||
| ENST00000510955.5:n.213G>A | ||
| ENST00000511231.1:n.213G>A | ||
| NM_000027.3:c.179G>A | NP_000018.2:p.Gly60Asp | |
| NM_001171988.1:c.179G>A | NP_001165459.1:p.Gly60Asp | |
| NR_033655.1:n.307G>A | ||
| XM_006714123.2:c.179G>A | XP_006714186.1:p.Gly60Asp | |
| XR_001741155.2:n.273G>A | ||
| NM_000027.4:c.179G>A MANE Select | NP_000018.2:p.Gly60Asp | |
| NM_001171988.2:c.179G>A | NP_001165459.1:p.Gly60Asp | |
| NR_033655.2:n.241G>A |