Linked Data
dbSNP Id:
rs188543727
gnomAD v2:
17-7357557-G-C
gnomAD v3:
17-7454238-G-C
gnomAD v4:
17-7454238-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454238G>C , CM000679.2:g.7454238G>C | GRCh38 |
| NC_000017.10:g.7357557G>C , CM000679.1:g.7357557G>C | GRCh37 |
| NC_000017.9:g.7298281G>C | NCBI36 |
| NG_008026.1:g.14152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.821-59G>C MANE Select | ENSP00000304290.2:n.821-59G>C | |
| ENST00000306071.6:c.821-59G>C | ENSP00000304290.2:n.821-59G>C | |
| ENST00000536404.6:c.605-59G>C | ENSP00000439209.2:n.605-59G>C | |
| ENST00000570557.5:c.484-59G>C | ||
| ENST00000573209.1:n.1765-59G>C | ||
| ENST00000576360.1:c.605-206G>C | ENSP00000459092.1:n.605-206G>C | |
| NM_000747.2:c.821-59G>C | NP_000738.2:n.821-59G>C | |
| NM_000747.3:c.821-59G>C MANE Select | NP_000738.2:n.821-59G>C |