Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9979394C>T , CM000681.2:g.9979394C>T | GRCh38 |
| NC_000019.9:g.10090070C>T , CM000681.1:g.10090070C>T | GRCh37 |
| NC_000019.8:g.9951070C>T | NCBI36 |
| NG_046943.1:g.36145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264828.4:c.2736G>A MANE Select | ENSP00000264828.3:p.Pro912= | |
| ENST00000264828.3:c.2736G>A | ENSP00000264828.3:p.Pro912= | |
| NM_015719.3:c.2736G>A | NP_056534.2:p.Pro912= | |
| XM_011528042.1:c.2733G>A | XP_011526344.1:p.Pro911= | |
| XM_011528042.2:c.2733G>A | XP_011526344.1:p.Pro911= | |
| XM_017026849.2:c.399G>A | XP_016882338.1:p.Pro133= | |
| NM_015719.4:c.2736G>A MANE Select | NP_056534.2:p.Pro912= |