dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356224A>C , CM000663.2:g.17356224A>C | GRCh38 |
| NC_000001.10:g.17682719A>C , CM000663.1:g.17682719A>C | GRCh37 |
| NC_000001.9:g.17555306A>C | NCBI36 |
| NG_023261.2:g.53035A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1455+97A>C MANE Select | ENSP00000364597.4:n.1455+97A>C | |
| ENST00000467001.1:n.356+97A>C | ||
| ENST00000487048.5:n.422+97A>C | ||
| NM_012387.2:c.1455+97A>C | NP_036519.2:n.1455+97A>C | |
| XM_011541150.1:c.1269+97A>C | XP_011539452.1:n.1269+97A>C | |
| XM_011541151.1:c.1156-133A>C | XP_011539453.1:n.1156-133A>C | |
| XM_011541152.1:c.918+97A>C | XP_011539454.1:n.918+97A>C | |
| XM_011541157.1:c.564+97A>C | XP_011539459.1:n.564+97A>C | |
| NM_012387.3:c.1455+97A>C MANE Select | NP_036519.2:n.1455+97A>C |