Linked Data
dbSNP Id:
rs1229024814
gnomAD v2:
17-48051673-T-A
gnomAD v3:
17-49974309-T-A
gnomAD v4:
17-49974309-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49974309T>A , CM000679.2:g.49974309T>A | GRCh38 |
| NC_000017.10:g.48051673T>A , CM000679.1:g.48051673T>A | GRCh37 |
| NC_000017.9:g.45406672T>A | NCBI36 |
| NG_030592.1:g.10112T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1970T>A | ||
| ENST00000240306.5:c.*366T>A MANE Select | ENSP00000240306.3:n.*366T>A | |
| ENST00000240306.4:c.*366T>A | ENSP00000240306.3:n.*366T>A | |
| ENST00000411890.3:c.*366T>A | ENSP00000410622.2:n.*366T>A | |
| ENST00000611342.1:c.*959T>A | ENSP00000480366.1:n.*959T>A | |
| NM_001934.3:c.*366T>A | NP_001925.2:n.*366T>A | |
| NM_138281.2:c.*366T>A | NP_612138.1:n.*366T>A | |
| XM_011524459.1:c.*366T>A | XP_011522761.1:n.*366T>A | |
| XM_017024291.1:c.*366T>A | XP_016879780.1:n.*366T>A | |
| NM_138281.3:c.*366T>A MANE Select | NP_612138.1:n.*366T>A | |
| NM_001934.4:c.*366T>A | NP_001925.2:n.*366T>A |