Linked Data
dbSNP Id:
rs762207250
ExAC:
9:32550795 T / C
gnomAD v2:
9-32550795-T-C
gnomAD v4:
9-32550797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550797T>C , CM000671.2:g.32550797T>C | GRCh38 |
| NC_000009.11:g.32550795T>C , CM000671.1:g.32550795T>C | GRCh37 |
| NC_000009.10:g.32540795T>C | NCBI36 |
| NG_017050.1:g.6828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.175A>G MANE Select | ENSP00000353735.2:p.Arg59Gly | |
| ENST00000680198.1:c.175A>G | ENSP00000505143.1:p.Arg59Gly | |
| ENST00000681750.1:c.-68A>G | ENSP00000506413.1:n.-68A>G | |
| ENST00000360538.6:c.175A>G | ENSP00000353735.2:p.Arg59Gly | |
| ENST00000379858.1:c.3+1637A>G | ENSP00000369187.1:n.3+1637A>G | |
| NM_001195622.1:c.3+1637A>G | NP_001182551.1:n.3+1637A>G | |
| NM_005802.4:c.175A>G | NP_005793.2:p.Arg59Gly | |
| NM_005802.5:c.175A>G MANE Select | NP_005793.2:p.Arg59Gly | |
| NM_001195622.2:c.3+1637A>G | NP_001182551.1:n.3+1637A>G |