Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788399C>T , CM000681.2:g.18788399C>T | GRCh38 |
| NC_000019.9:g.18899208C>T , CM000681.1:g.18899208C>T | GRCh37 |
| NC_000019.8:g.18760208C>T | NCBI36 |
| NG_007070.1:g.7907G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.867+11G>A MANE Select | NP_000086.2:n.867+11G>A |
| ENST00000222271.7:c.867+11G>A MANE Select | ENSP00000222271.2:n.867+11G>A |
| NM_000095.2:c.867+11G>A | NP_000086.2:n.867+11G>A |
| ENST00000222271.6:c.867+11G>A | ENSP00000222271.2:n.867+11G>A |
| ENST00000425807.1:c.708+11G>A | ENSP00000403792.1:n.708+11G>A |
| ENST00000542601.6:c.768+11G>A | ENSP00000439156.2:n.768+11G>A |