Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731806A>C , CM000685.2:g.8731806A>C | GRCh38 |
| NC_000023.10:g.8699847A>C , CM000685.1:g.8699847A>C | GRCh37 |
| NC_000023.9:g.8659847A>C | NCBI36 |
| NG_007088.1:g.5381T>G | |
| NG_007088.2:g.5381T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.207+24T>G MANE Select | ENSP00000262648.3:n.207+24T>G | |
| ENST00000262648.7:c.207+24T>G | ENSP00000262648.3:n.207+24T>G | |
| ENST00000619786.1:c.204+24T>G | ENSP00000478734.1:n.204+24T>G | |
| NM_000216.2:c.207+24T>G | NP_000207.2:n.207+24T>G | |
| XM_005274501.3:c.207+24T>G | XP_005274558.1:n.207+24T>G | |
| NM_000216.3:c.207+24T>G | NP_000207.2:n.207+24T>G | |
| XM_005274501.4:c.207+24T>G | XP_005274558.1:n.207+24T>G | |
| NM_000216.4:c.207+24T>G MANE Select | NP_000207.2:n.207+24T>G |