Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15239592G>T , CM000681.2:g.15239592G>T | GRCh38 |
| NC_000019.9:g.15350403G>T , CM000681.1:g.15350403G>T | GRCh37 |
| NC_000019.8:g.15211403G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679869.1:c.3445+67C>A MANE Select | ENSP00000506350.1:n.3445+67C>A | |
| ENST00000263377.6:c.3445+67C>A | ENSP00000263377.1:n.3445+67C>A | |
| NM_058243.2:c.3445+67C>A | NP_490597.1:n.3445+67C>A | |
| XM_011527854.1:c.3445+67C>A | XP_011526156.1:n.3445+67C>A | |
| XM_011527854.2:c.3445+67C>A | XP_011526156.1:n.3445+67C>A | |
| NM_001379291.1:c.3445+67C>A MANE Select | NP_001366220.1:n.3445+67C>A | |
| NM_058243.3:c.3445+67C>A | NP_490597.1:n.3445+67C>A |