Linked Data
ClinVar Variation Id:
2639040
dbSNP Id:
rs1374498324
gnomAD v2:
1-120458225-G-C
gnomAD v3:
1-119915602-G-C
gnomAD v4:
1-119915602-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915602G>C , CM000663.2:g.119915602G>C | GRCh38 |
| NC_000001.10:g.120458225G>C , CM000663.1:g.120458225G>C | GRCh37 |
| NC_000001.9:g.120259748G>C | NCBI36 |
| NG_008163.1:g.159052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7120C>G MANE Select | ENSP00000256646.2:p.His2374Asp | |
| ENST00000256646.6:c.7120C>G | ENSP00000256646.2:p.His2374Asp | |
| NM_024408.3:c.7120C>G | NP_077719.2:p.His2374Asp | |
| XM_005270901.2:c.7003C>G | XP_005270958.1:p.His2335Asp | |
| XM_011541519.1:c.7108C>G | XP_011539821.1:p.His2370Asp | |
| XM_011541520.1:c.7003C>G | XP_011539822.1:p.His2335Asp | |
| NM_024408.4:c.7120C>G MANE Select | NP_077719.2:p.His2374Asp |