Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180482C= , CM000681.2:g.15180482C= | GRCh38 |
| NC_000019.9:g.15291293C= , CM000681.1:g.15291293C= | GRCh37 |
| NC_000019.8:g.15152293C= | NCBI36 |
| NG_009819.1:g.25500G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3142+199G= MANE Select | ENSP00000263388.1:n.3142+199G= | |
| ENST00000263388.6:c.3142+199G= | ENSP00000263388.1:n.3142+199G= | |
| ENST00000601011.1:c.2983+199G= | ENSP00000473138.1:n.2983+199G= | |
| NM_000435.2:c.3142+199G= | NP_000426.2:n.3142+199G= | |
| XM_005259924.3:c.2986+199G= | XP_005259981.1:n.2986+199G= | |
| XM_005259924.4:c.2986+199G= | XP_005259981.1:n.2986+199G= | |
| NM_000435.3:c.3142+199G= MANE Select | NP_000426.2:n.3142+199G= |