Linked Data
dbSNP Id:
rs373498615
ExAC:
19:18896501 G / C
gnomAD v2:
19-18896501-G-C
gnomAD v3:
19-18785691-G-C
gnomAD v4:
19-18785691-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785691G>C , CM000681.2:g.18785691G>C | GRCh38 |
| NC_000019.9:g.18896501G>C , CM000681.1:g.18896501G>C | GRCh37 |
| NC_000019.8:g.18757501G>C | NCBI36 |
| NG_007070.1:g.10614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1650C>G MANE Select | ENSP00000222271.2:p.Asn550Lys | |
| ENST00000222271.6:c.1650C>G | ENSP00000222271.2:p.Asn550Lys | |
| ENST00000425807.1:c.1491C>G | ENSP00000403792.1:p.Asn497Lys | |
| ENST00000542601.6:c.1551C>G | ENSP00000439156.2:p.Asn517Lys | |
| NM_000095.2:c.1650C>G | NP_000086.2:p.Asn550Lys | |
| NM_000095.3:c.1650C>G MANE Select | NP_000086.2:p.Asn550Lys |