Linked Data
gnomAD v4:
X-153690479-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690479G>A , CM000685.2:g.153690479G>A | GRCh38 |
| NC_000023.10:g.152955934G>A , CM000685.1:g.152955934G>A | GRCh37 |
| NC_000023.9:g.152609128G>A | NCBI36 |
| NG_012016.1:g.7183G>A | |
| NG_012016.2:g.7183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.367G>A MANE Select | ENSP00000253122.5:p.Val123Ile | |
| ENST00000675713.1:n.121G>A | ||
| ENST00000253122.9:c.367G>A | ENSP00000253122.5:p.Val123Ile | |
| ENST00000430077.6:c.22G>A | ENSP00000403041.2:p.Val8Ile | |
| ENST00000476466.1:n.219G>A | ||
| NM_001142805.1:c.367G>A | NP_001136277.1:p.Val123Ile | |
| NM_001142806.1:c.22G>A | NP_001136278.1:p.Val8Ile | |
| NM_005629.3:c.367G>A | NP_005620.1:p.Val123Ile | |
| NM_005629.4:c.367G>A MANE Select | NP_005620.1:p.Val123Ile | |
| NM_001142805.2:c.367G>A | NP_001136277.1:p.Val123Ile |