Linked Data
dbSNP Id:
rs148638215
gnomAD v2:
8-37622919-A-T
gnomAD v3:
8-37765401-A-T
gnomAD v4:
8-37765401-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765401A>T , CM000670.2:g.37765401A>T | GRCh38 |
| NC_000008.10:g.37622919A>T , CM000670.1:g.37622919A>T | GRCh37 |
| NC_000008.9:g.37742077A>T | NCBI36 |
| NG_053030.1:g.8649A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.100-125A>T MANE Select | ENSP00000333551.3:n.100-125A>T | |
| ENST00000328195.7:c.100-125A>T | ENSP00000333551.3:n.100-125A>T | |
| ENST00000518036.5:c.100-125A>T | ENSP00000428005.1:n.100-125A>T | |
| ENST00000520073.5:n.165-125A>T | ||
| ENST00000523187.5:c.-57-125A>T | ENSP00000427886.1:n.-57-125A>T | |
| ENST00000523358.5:c.100-125A>T | ENSP00000427778.1:n.100-125A>T | |
| ENST00000523994.1:n.105-125A>T | ||
| NM_007198.3:c.100-125A>T | NP_009129.1:n.100-125A>T | |
| NM_001349346.1:c.100-125A>T | NP_001336275.1:n.100-125A>T | |
| NM_001349347.1:c.100-125A>T | NP_001336276.1:n.100-125A>T | |
| NM_001349348.1:c.-57-125A>T | NP_001336277.1:n.-57-125A>T | |
| NM_001349349.1:c.205-125A>T | NP_001336278.1:n.205-125A>T | |
| NM_007198.4:c.100-125A>T MANE Select | NP_009129.1:n.100-125A>T | |
| NM_001349346.2:c.100-125A>T | NP_001336275.1:n.100-125A>T | |
| NM_001349347.2:c.100-125A>T | NP_001336276.1:n.100-125A>T | |
| NM_001349348.2:c.-57-125A>T | NP_001336277.1:n.-57-125A>T |