Linked Data
ClinVar Variation Id:
3099832
ClinVar RCV Id:
RCV004390657
dbSNP Id:
rs889114847
gnomAD v2:
7-150174756-G-C
gnomAD v3:
7-150477668-G-C
gnomAD v4:
7-150477668-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150477668G>C , CM000669.2:g.150477668G>C | GRCh38 |
| NC_000007.13:g.150174756G>C , CM000669.1:g.150174756G>C | GRCh37 |
| NC_000007.12:g.149805689G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307271.4:c.1886G>C MANE Select | ENSP00000305107.3:p.Gly629Ala | |
| ENST00000307271.3:c.1886G>C | ENSP00000305107.3:p.Gly629Ala | |
| NM_175571.3:c.1886G>C | NP_783161.1:p.Gly629Ala | |
| XM_005249950.3:c.1886G>C | XP_005250007.1:p.Gly629Ala | |
| XM_005249951.2:c.1259G>C | XP_005250008.1:p.Gly420Ala | |
| XM_005249950.4:c.1886G>C | XP_005250007.1:p.Gly629Ala | |
| XM_005249951.4:c.1259G>C | XP_005250008.1:p.Gly420Ala | |
| NM_175571.4:c.1886G>C MANE Select | NP_783161.1:p.Gly629Ala |