dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.132302045C>A , CM000668.2:g.132302045C>A | GRCh38 |
| NC_000006.11:g.132623184C>A , CM000668.1:g.132623184C>A | GRCh37 |
| NC_000006.10:g.132664877C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367963.8:c.1509-4090G>T MANE Select | ENSP00000356940.3:n.1509-4090G>T | |
| ENST00000336749.3:c.1305-4090G>T | ENSP00000336998.3:n.1305-4090G>T | |
| ENST00000367963.7:c.1509-4090G>T | ENSP00000356940.3:n.1509-4090G>T | |
| NM_015529.3:c.1509-4090G>T | NP_056344.2:n.1509-4090G>T | |
| XM_017010714.2:c.1404-4090G>T | XP_016866203.1:n.1404-4090G>T | |
| NM_015529.4:c.1509-4090G>T MANE Select | NP_056344.2:n.1509-4090G>T |