Linked Data
ClinVar Variation Id:
2915809
ClinVar RCV Id:
RCV003747612
dbSNP Id:
rs912607560
gnomAD v2:
4-88967976-A-G
gnomAD v4:
4-88046824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046824A>G , CM000666.2:g.88046824A>G | GRCh38 |
| NC_000004.11:g.88967976A>G , CM000666.1:g.88967976A>G | GRCh37 |
| NC_000004.10:g.89187000A>G | NCBI36 |
| NG_008604.1:g.44157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1502A>G MANE Select | ENSP00000237596.2:p.His501Arg | |
| ENST00000237596.6:c.1502A>G | ENSP00000237596.2:p.His501Arg | |
| ENST00000508588.5:c.-199+3367A>G | ENSP00000427131.1:n.-199+3367A>G | |
| NM_000297.3:c.1502A>G | NP_000288.1:p.His501Arg | |
| XM_011532028.1:c.1277A>G | XP_011530330.1:p.His426Arg | |
| XM_011532029.1:c.782A>G | XP_011530331.1:p.His261Arg | |
| XM_011532030.1:c.662A>G | XP_011530332.1:p.His221Arg | |
| XR_244632.2:n.1597A>G | ||
| NR_156488.1:n.1589A>G | ||
| XM_011532028.2:c.1277A>G | XP_011530330.1:p.His426Arg | |
| XM_011532030.2:c.662A>G | XP_011530332.1:p.His221Arg | |
| NM_000297.4:c.1502A>G MANE Select | NP_000288.1:p.His501Arg | |
| NR_156488.2:n.1601A>G |