Linked Data
gnomAD v4:
X-137567106-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567106C>A , CM000685.2:g.137567106C>A | GRCh38 |
| NC_000023.10:g.136649265C>A , CM000685.1:g.136649265C>A | GRCh37 |
| NC_000023.9:g.136476931C>A | NCBI36 |
| NG_008115.1:g.5920C>A | |
| NG_008115.2:g.5980C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.415C>A MANE Select | ENSP00000287538.5:p.Leu139Ile | |
| ENST00000287538.9:c.415C>A | ENSP00000287538.5:p.Leu139Ile | |
| ENST00000370606.3:c.415C>A | ENSP00000359638.3:p.Leu139Ile | |
| NM_003413.3:c.415C>A | NP_003404.1:p.Leu139Ile | |
| NM_001330661.1:c.415C>A | NP_001317590.1:p.Leu139Ile | |
| NM_003413.4:c.415C>A MANE Select | NP_003404.1:p.Leu139Ile |