gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1411242C>T , CM000667.2:g.1411242C>T | GRCh38 |
| NC_000005.9:g.1411357C>T , CM000667.1:g.1411357C>T | GRCh37 |
| NC_000005.8:g.1464357C>T | NCBI36 |
| NG_015885.1:g.39187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1269+1G>A MANE Select | ENSP00000270349.9:n.1269+1G>A | |
| ENST00000270349.11:c.1269+1G>A | ENSP00000270349.9:n.1269+1G>A | |
| NM_001044.4:c.1269+1G>A | NP_001035.1:n.1269+1G>A | |
| NM_001044.5:c.1269+1G>A MANE Select | NP_001035.1:n.1269+1G>A |