Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42368576G>A , CM000681.2:g.42368576G>A | GRCh38 |
| NC_000019.9:g.42872728G>A , CM000681.1:g.42872728G>A | GRCh37 |
| NC_000019.8:g.47564568G>A | NCBI36 |
| NG_033030.1:g.47968G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.6395G>A MANE Select | NP_001258867.1:p.Arg2132Gln |
| ENST00000251268.11:c.6395G>A MANE Select | ENSP00000251268.5:p.Arg2132Gln |
| NM_001271938.1:c.6395G>A | NP_001258867.1:p.Arg2132Gln |
| NM_001410.2:c.6194G>A | NP_001401.2:p.Arg2065Gln |
| NM_001410.3:c.6194G>A | NP_001401.2:p.Arg2065Gln |
| ENST00000251268.10:c.6395G>A | ENSP00000251268.5:p.Arg2132Gln |
| ENST00000334370.8:c.6194G>A | ENSP00000334219.4:p.Arg2065Gln |
| ENST00000378073.5:c.-691G>A | ENSP00000367313.4:n.-691G>A |
| ENST00000598762.1:c.161+6363G>A |