Linked Data
dbSNP Id:
rs1975956523
gnomAD v3:
17-8015756-A-C
gnomAD v4:
17-8015756-A-C
MyVariant Identifiers:
chr17:g.7919074A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015756A>C , CM000679.2:g.8015756A>C | GRCh38 |
| NC_000017.10:g.7919074A>C , CM000679.1:g.7919074A>C | GRCh37 |
| NC_000017.9:g.7859799A>C | NCBI36 |
| NG_009092.1:g.18087A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2958A>C MANE Select | ENSP00000254854.4:p.Ala986= | |
| ENST00000254854.4:c.2958A>C | ENSP00000254854.4:p.Ala986= | |
| NM_000180.3:c.2958A>C | NP_000171.1:p.Ala986= | |
| XM_011523816.1:c.2958A>C | XP_011522118.1:p.Ala986= | |
| NM_000180.4:c.2958A>C MANE Select | NP_000171.1:p.Ala986= |