Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869168A>G , CM000664.2:g.240869168A>G | GRCh38 |
| NC_000002.11:g.241808585A>G , CM000664.1:g.241808585A>G | GRCh37 |
| NC_000002.10:g.241457258A>G | NCBI36 |
| NG_008005.1:g.5424A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-2A>G MANE Select | ENSP00000302620.3:n.166-2A>G | |
| ENST00000307503.3:c.166-2A>G | ENSP00000302620.3:n.166-2A>G | |
| ENST00000472436.1:n.186-2A>G | ||
| NM_000030.2:c.166-2A>G | NP_000021.1:n.166-2A>G | |
| XR_924060.1:n.405+1065T>C | ||
| NM_000030.3:c.166-2A>G MANE Select | NP_000021.1:n.166-2A>G |