Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574436C>T , CM000685.2:g.47574436C>T | GRCh38 |
| NC_000023.10:g.47433835C>T , CM000685.1:g.47433835C>T | GRCh37 |
| NC_000023.9:g.47318779C>T | NCBI36 |
| NG_008437.1:g.50422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1548G>A MANE Select | ENSP00000295987.7:p.Gln516= | |
| ENST00000340666.5:c.1548G>A | ENSP00000343206.4:p.Gln516= | |
| ENST00000640721.1:c.70+252G>A | ENSP00000492857.1:n.70+252G>A | |
| ENST00000295987.11:c.1548G>A | ENSP00000295987.7:p.Gln516= | |
| ENST00000340666.4:c.1548G>A | ENSP00000343206.4:p.Gln516= | |
| NM_006950.3:c.1548G>A MANE Select | NP_008881.2:p.Gln516= | |
| NM_133499.2:c.1548G>A | NP_598006.1:p.Gln516= |