Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115731071A>T , CM000663.2:g.115731071A>T | GRCh38 |
| NC_000001.10:g.116273692A>T , CM000663.1:g.116273692A>T | GRCh37 |
| NC_000001.9:g.116075215A>T | NCBI36 |
| NG_008802.1:g.42735T>A , LRG_404:g.42735T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.425+1043T>A | ENSP00000518226.1:n.425+1043T>A | |
| ENST00000261448.6:c.606+1830T>A MANE Select | ENSP00000261448.5:n.606+1830T>A | |
| ENST00000261448.5:c.606+1830T>A | ENSP00000261448.5:n.606+1830T>A | |
| ENST00000488931.1:n.122+1043T>A | ||
| NM_001232.3:c.606+1830T>A , LRG_404t1:c.606+1830T>A | NP_001223.2:n.606+1830T>A | |
| NM_001232.4:c.606+1830T>A MANE Select | NP_001223.2:n.606+1830T>A |