Linked Data
dbSNP Id:
rs764872458
ExAC:
9:104187846 T / C
gnomAD v2:
9-104187846-T-C
gnomAD v4:
9-101425564-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425564T>C , CM000671.2:g.101425564T>C | GRCh38 |
| NC_000009.11:g.104187846T>C , CM000671.1:g.104187846T>C | GRCh37 |
| NC_000009.10:g.103227667T>C | NCBI36 |
| NG_012387.1:g.15217A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.688A>G MANE Select | ENSP00000497767.1:p.Lys230Glu | |
| ENST00000648064.1:c.688A>G | ENSP00000497990.1:p.Lys230Glu | |
| ENST00000648758.1:c.688A>G | ENSP00000497731.1:p.Lys230Glu | |
| ENST00000649902.1:c.688A>G | ENSP00000497216.1:p.Lys230Glu | |
| ENST00000374855.8:c.688A>G | ENSP00000363988.4:p.Lys230Glu | |
| ENST00000468981.3:n.215A>G | ||
| ENST00000616752.1:c.688A>G | ENSP00000481363.1:p.Lys230Glu | |
| NM_000035.3:c.688A>G | NP_000026.2:p.Lys230Glu | |
| NM_000035.4:c.688A>G MANE Select | NP_000026.2:p.Lys230Glu |