Linked Data
ClinVar Variation Id:
1713824
ClinVar RCV Id:
RCV002295606
dbSNP Id:
rs1257782096
gnomAD v2:
15-41689050-C-G
gnomAD v4:
15-41396852-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41396852C>G , CM000677.2:g.41396852C>G | GRCh38 |
| NC_000015.9:g.41689050C>G , CM000677.1:g.41689050C>G | GRCh37 |
| NC_000015.8:g.39476342C>G | NCBI36 |
| NG_031924.1:g.10609G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260361.9:c.208G>C MANE Select | ENSP00000260361.4:p.Asp70His | |
| ENST00000558719.2:c.208G>C | ENSP00000454083.2:p.Asp70His | |
| ENST00000560978.2:c.208G>C | ENSP00000453944.2:p.Asp70His | |
| ENST00000676533.1:c.208G>C | ENSP00000504040.1:p.Asp70His | |
| ENST00000676906.1:c.-252G>C | ENSP00000503122.1:n.-252G>C | |
| ENST00000677477.1:n.1434G>C | ||
| ENST00000678029.1:c.208G>C | ENSP00000503887.1:p.Asp70His | |
| ENST00000678745.1:c.208G>C | ENSP00000503632.1:p.Asp70His | |
| ENST00000679094.1:c.208G>C | ENSP00000504295.1:p.Asp70His | |
| ENST00000679240.1:n.606G>C | ||
| ENST00000260361.8:c.208G>C | ENSP00000260361.4:p.Asp70His | |
| ENST00000558719.1:c.208G>C | ENSP00000454083.1:p.Asp70His | |
| ENST00000559127.5:c.208G>C | ENSP00000453027.1:p.Asp70His | |
| ENST00000560978.1:c.208G>C | ENSP00000453944.1:p.Asp70His | |
| NM_016013.3:c.208G>C | NP_057097.2:p.Asp70His | |
| NR_045620.1:n.606G>C | ||
| XM_006720555.1:c.208G>C | XP_006720618.1:p.Asp70His | |
| XM_011521658.1:c.208G>C | XP_011519960.1:p.Asp70His | |
| XM_011521659.1:c.208G>C | XP_011519961.1:p.Asp70His | |
| XM_006720555.3:c.208G>C | XP_006720618.1:p.Asp70His | |
| XM_011521659.3:c.208G>C | XP_011519961.1:p.Asp70His | |
| XM_024449945.1:c.208G>C | XP_024305713.1:p.Asp70His | |
| NM_016013.4:c.208G>C MANE Select | NP_057097.2:p.Asp70His | |
| NR_045620.2:n.642G>C |