Linked Data
gnomAD v4:
X-154965919-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965919C>A , CM000685.2:g.154965919C>A | GRCh38 |
| NC_000023.10:g.154194194C>A , CM000685.1:g.154194194C>A | GRCh37 |
| NC_000023.9:g.153847388C>A | NCBI36 |
| NG_011403.1:g.61805G>T | |
| NG_011403.2:g.61805G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1443+51G>T MANE Select | ENSP00000353393.4:n.1443+51G>T | |
| ENST00000647125.1:c.*1319+51G>T | ENSP00000496062.1:n.*1319+51G>T | |
| ENST00000360256.8:c.1443+51G>T | ENSP00000353393.4:n.1443+51G>T | |
| ENST00000483822.2:n.314G>T | ||
| NM_000132.3:c.1443+51G>T | NP_000123.1:n.1443+51G>T | |
| XM_011531126.1:c.1338+51G>T | XP_011529428.1:n.1338+51G>T | |
| NM_000132.4:c.1443+51G>T MANE Select | NP_000123.1:n.1443+51G>T |