Linked Data
dbSNP Id:
rs769217873
ExAC:
17:7919192 G / C
gnomAD v2:
17-7919192-G-C
gnomAD v4:
17-8015874-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015874G>C , CM000679.2:g.8015874G>C | GRCh38 |
| NC_000017.10:g.7919192G>C , CM000679.1:g.7919192G>C | GRCh37 |
| NC_000017.9:g.7859917G>C | NCBI36 |
| NG_009092.1:g.18205G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3043+33G>C MANE Select | ENSP00000254854.4:n.3043+33G>C | |
| ENST00000254854.4:c.3043+33G>C | ENSP00000254854.4:n.3043+33G>C | |
| NM_000180.3:c.3043+33G>C | NP_000171.1:n.3043+33G>C | |
| XM_011523816.1:c.3043+33G>C | XP_011522118.1:n.3043+33G>C | |
| NM_000180.4:c.3043+33G>C MANE Select | NP_000171.1:n.3043+33G>C |