Linked Data
dbSNP Id:
rs1455481950
gnomAD v2:
8-19811663-G-C
gnomAD v3:
8-19954152-G-C
gnomAD v4:
8-19954152-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954152G>C , CM000670.2:g.19954152G>C | GRCh38 |
| NC_000008.10:g.19811663G>C , CM000670.1:g.19811663G>C | GRCh37 |
| NC_000008.9:g.19855943G>C | NCBI36 |
| NG_008855.1:g.20082G>C | |
| NG_008855.2:g.57436G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.574G>C MANE Select | ENSP00000497642.1:p.Ala192Pro | |
| ENST00000311322.8:c.574G>C | ENSP00000309757.6:p.Ala192Pro | |
| NM_000237.2:c.574G>C | NP_000228.1:p.Ala192Pro | |
| NM_000237.3:c.574G>C MANE Select | NP_000228.1:p.Ala192Pro |