Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106034370C>T , CM000685.2:g.106034370C>T | GRCh38 |
| NC_000023.10:g.105278361C>T , CM000685.1:g.105278361C>T | GRCh37 |
| NC_000023.9:g.105165017C>T | NCBI36 |
| NG_021252.1:g.9358G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000354.6:c.909G>A MANE Select | NP_000345.2:p.Leu303= |
| ENST00000372563.2:c.909G>A MANE Select | ENSP00000361644.1:p.Leu303= |
| NM_000354.5:c.909G>A | NP_000345.2:p.Leu303= |
| ENST00000327674.8:c.909G>A | ENSP00000329374.4:p.Leu303= |
| ENST00000372563.1:c.909G>A | ENSP00000361644.1:p.Leu303= |
| ENST00000487487.1:n.182G>A | |
| XM_005262180.3:c.909G>A | XP_005262237.1:p.Leu303= |
| XM_005262180.4:c.909G>A | XP_005262237.1:p.Leu303= |
| XM_006724683.1:c.909G>A | XP_006724746.1:p.Leu303= |
| XM_006724683.2:c.909G>A | XP_006724746.1:p.Leu303= |