Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323036C>A , CM000667.2:g.159323036C>A | GRCh38 |
| NC_000005.9:g.158750044C>A , CM000667.1:g.158750044C>A | GRCh37 |
| NC_000005.8:g.158682622C>A | NCBI36 |
| NG_009618.1:g.12438G>T , LRG_71:g.12438G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-148-2516G>T | ENSP00000512849.1:n.-148-2516G>T | |
| ENST00000696751.1:c.364+18G>T | ENSP00000512850.1:n.364+18G>T | |
| ENST00000231228.3:c.364+18G>T MANE Select | ENSP00000231228.2:n.364+18G>T | |
| ENST00000231228.2:c.364+18G>T | ENSP00000231228.2:n.364+18G>T | |
| NM_002187.2:c.364+18G>T , LRG_71t1:c.364+18G>T | NP_002178.2:n.364+18G>T | |
| XR_001742945.1:n.147+2440C>A | ||
| NM_002187.3:c.364+18G>T MANE Select | NP_002178.2:n.364+18G>T |