dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830725C>A , CM000664.2:g.112830725C>A | GRCh38 |
| NC_000002.11:g.113588302C>A , CM000664.1:g.113588302C>A | GRCh37 |
| NC_000002.10:g.113304773C>A | NCBI36 |
| NG_008851.1:g.11055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.598-152G>T MANE Select | ENSP00000263341.2:n.598-152G>T | |
| ENST00000263341.6:c.598-152G>T | ENSP00000263341.2:n.598-152G>T | |
| ENST00000491056.5:n.1405-152G>T | ||
| NM_000576.2:c.598-152G>T | NP_000567.1:n.598-152G>T | |
| XM_006712496.1:c.364-152G>T | XP_006712559.1:n.364-152G>T | |
| XM_017003988.2:c.505-152G>T | XP_016859477.1:n.505-152G>T | |
| NM_000576.3:c.598-152G>T MANE Select | NP_000567.1:n.598-152G>T |