Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849365T>A , CM000681.2:g.35849365T>A | GRCh38 |
| NC_000019.9:g.36340267T>A , CM000681.1:g.36340267T>A | GRCh37 |
| NC_000019.8:g.41032107T>A | NCBI36 |
| NG_013356.2:g.24923A>T , LRG_693:g.24923A>T | |
| NG_051206.1:g.2731T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.713-2A>T MANE Select | NP_004637.1:n.713-2A>T |
| ENST00000378910.10:c.713-2A>T MANE Select | ENSP00000368190.4:n.713-2A>T |
| NM_004646.3:c.713-2A>T , LRG_693t1:c.713-2A>T | NP_004637.1:n.713-2A>T |
| ENST00000353632.6:c.713-2A>T | ENSP00000343634.5:n.713-2A>T |
| ENST00000378910.9:c.713-2A>T | ENSP00000368190.4:n.713-2A>T |