Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10972916C>A , CM000663.2:g.10972916C>A | GRCh38 |
| NC_000001.10:g.11032973C>A , CM000663.1:g.11032973C>A | GRCh37 |
| NC_000001.9:g.10955560C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377004.9:c.128-2827G>T MANE Select | ENSP00000366203.4:n.128-2827G>T | |
| ENST00000377004.8:c.128-2827G>T | ENSP00000366203.4:n.128-2827G>T | |
| ENST00000520253.1:c.61-2827G>T | ||
| NM_001170754.1:c.128-2827G>T | NP_001164225.1:n.128-2827G>T | |
| NM_001170754.2:c.128-2827G>T MANE Select | NP_001164225.1:n.128-2827G>T |