Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689480A>G , CM000667.2:g.74689480A>G | GRCh38 |
| NC_000005.9:g.73985305A>G , CM000667.1:g.73985305A>G | GRCh37 |
| NC_000005.8:g.74021061A>G | NCBI36 |
| NG_009770.1:g.9337A>G | |
| NG_009770.2:g.54458A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.445+7A>G MANE Select | NP_000512.2:n.445+7A>G |
| ENST00000261416.12:c.445+7A>G MANE Select | ENSP00000261416.7:n.445+7A>G |
| NM_000521.3:c.445+7A>G | NP_000512.1:n.445+7A>G |
| NM_001292004.1:c.-231+7A>G | NP_001278933.1:n.-231+7A>G |
| NM_001292004.2:c.-231+7A>G | NP_001278933.1:n.-231+7A>G |
| ENST00000261416.11:c.445+7A>G | ENSP00000261416.7:n.445+7A>G |
| ENST00000511181.5:c.-231+7A>G | ENSP00000426285.1:n.-231+7A>G |
| ENST00000513079.5:n.510+7A>G | |
| ENST00000515528.1:n.507A>G |