Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157568901G>T , CM000667.2:g.157568901G>T | GRCh38 |
| NC_000005.9:g.156995909G>T , CM000667.1:g.156995909G>T | GRCh37 |
| NC_000005.8:g.156928487G>T | NCBI36 |
| NG_046960.1:g.11923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257527.9:c.180+1994C>A MANE Select | ENSP00000257527.5:n.180+1994C>A | |
| ENST00000257527.8:c.180+1994C>A | ENSP00000257527.4:n.180+1994C>A | |
| ENST00000517905.1:c.180+1994C>A | ENSP00000428654.1:n.180+1994C>A | |
| ENST00000517951.5:c.180+1994C>A | ENSP00000428376.1:n.180+1994C>A | |
| NM_033274.4:c.180+1994C>A | NP_150377.1:n.180+1994C>A | |
| XM_005266003.2:c.180+1994C>A | XP_005266060.1:n.180+1994C>A | |
| NM_033274.5:c.180+1994C>A MANE Select | NP_150377.1:n.180+1994C>A |