Linked Data
ClinVar Variation Id:
1333946
ClinVar RCV Id:
RCV001809161
dbSNP Id:
rs750629438
ExAC:
4:6302687 G / C
gnomAD v2:
4-6302687-G-C
gnomAD v3:
4-6300960-G-C
gnomAD v4:
4-6300960-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300960G>C , CM000666.2:g.6300960G>C | GRCh38 |
| NC_000004.11:g.6302687G>C , CM000666.1:g.6302687G>C | GRCh37 |
| NC_000004.10:g.6353588G>C | NCBI36 |
| NG_011700.1:g.36111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1201G>C | ENSP00000507852.1:p.Asp401His | |
| ENST00000683395.1:c.1142G>C | ||
| ENST00000684087.1:c.1165G>C | ENSP00000506978.1:p.Asp389His | |
| ENST00000506362.2:c.916G>C | ENSP00000424103.2:p.Asp306His | |
| ENST00000673642.1:c.824G>C | ENSP00000501242.1:p.Gly275Ala | |
| ENST00000673991.1:c.1201G>C | ENSP00000501033.1:p.Asp401His | |
| ENST00000226760.5:c.1165G>C MANE Select | ENSP00000226760.1:p.Asp389His | |
| ENST00000503569.5:c.1165G>C | ENSP00000423337.1:p.Asp389His | |
| ENST00000507765.1:n.1350G>C | ||
| NM_001145853.1:c.1165G>C | NP_001139325.1:p.Asp389His | |
| NM_006005.3:c.1165G>C MANE Select | NP_005996.2:p.Asp389His | |
| XM_017008586.1:c.1174G>C | XP_016864075.1:p.Asp392His |