Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566990A= , CM000685.2:g.137566990A= | GRCh38 |
| NC_000023.10:g.136649149A= , CM000685.1:g.136649149A= | GRCh37 |
| NC_000023.9:g.136476815A= | NCBI36 |
| NG_008115.1:g.5804A= | |
| NG_008115.2:g.5864A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.299A= MANE Select | ENSP00000287538.5:p.Gln100= | |
| ENST00000287538.9:c.299A= | ENSP00000287538.5:p.Gln100= | |
| ENST00000370606.3:c.299A= | ENSP00000359638.3:p.Gln100= | |
| NM_003413.3:c.299A= | NP_003404.1:p.Gln100= | |
| NM_001330661.1:c.299A= | NP_001317590.1:p.Gln100= | |
| NM_003413.4:c.299A= MANE Select | NP_003404.1:p.Gln100= |