Linked Data
dbSNP Id:
rs142192777
gnomAD v2:
19-41838406-T-A
gnomAD v3:
19-41332501-T-A
gnomAD v4:
19-41332501-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41332501T>A , CM000681.2:g.41332501T>A | GRCh38 |
| NC_000019.9:g.41838406T>A , CM000681.1:g.41838406T>A | GRCh37 |
| NC_000019.8:g.46530246T>A | NCBI36 |
| NG_013364.1:g.26426A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.861-220A>T MANE Select | ENSP00000221930.4:n.861-220A>T | |
| ENST00000600196.2:c.713-220A>T | ENSP00000504008.1:n.713-220A>T | |
| ENST00000677934.1:c.635-220A>T | ENSP00000504769.1:n.635-220A>T | |
| ENST00000221930.5:c.861-220A>T | ENSP00000221930.4:n.861-220A>T | |
| ENST00000598758.5:c.149-220A>T | ||
| ENST00000600196.1:n.173-220A>T | ||
| NM_000660.5:c.861-220A>T | NP_000651.3:n.861-220A>T | |
| XM_011527242.1:c.864-220A>T | XP_011525544.1:n.864-220A>T | |
| NM_000660.6:c.861-220A>T | NP_000651.3:n.861-220A>T | |
| XM_011527242.2:c.864-220A>T | XP_011525544.1:n.864-220A>T | |
| NM_000660.7:c.861-220A>T MANE Select | NP_000651.3:n.861-220A>T |