Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016740A>G , CM000681.2:g.49016740A>G | GRCh38 |
| NC_000019.9:g.49519997A>G , CM000681.1:g.49519997A>G | GRCh37 |
| NC_000019.8:g.54211809A>G | NCBI36 |
| NG_011464.1:g.5351T>C | |
| NG_033041.1:g.27842A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.16-26T>C MANE Select | NP_000885.1:n.16-26T>C |
| ENST00000649238.3:c.16-26T>C MANE Select | ENSP00000497294.2:n.16-26T>C |
| NM_000894.2:c.16-26T>C | NP_000885.1:n.16-26T>C |
| ENST00000221421.6:c.16-26T>C | ENSP00000221421.1:n.16-26T>C |
| ENST00000391869.4:c.10-26T>C | ENSP00000375742.4:n.10-26T>C |
| ENST00000649284.1:n.81T>C | |
| XM_011526975.1:c.38T>C | XP_011525277.1:p.Leu13Pro |