Linked Data
dbSNP Id:
rs750844744
gnomAD v2:
19-41838400-T-C
gnomAD v3:
19-41332495-T-C
gnomAD v4:
19-41332495-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41332495T>C , CM000681.2:g.41332495T>C | GRCh38 |
| NC_000019.9:g.41838400T>C , CM000681.1:g.41838400T>C | GRCh37 |
| NC_000019.8:g.46530240T>C | NCBI36 |
| NG_013364.1:g.26432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.861-214A>G MANE Select | ENSP00000221930.4:n.861-214A>G | |
| ENST00000600196.2:c.713-214A>G | ENSP00000504008.1:n.713-214A>G | |
| ENST00000677934.1:c.635-214A>G | ENSP00000504769.1:n.635-214A>G | |
| ENST00000221930.5:c.861-214A>G | ENSP00000221930.4:n.861-214A>G | |
| ENST00000598758.5:c.149-214A>G | ||
| ENST00000600196.1:n.173-214A>G | ||
| NM_000660.5:c.861-214A>G | NP_000651.3:n.861-214A>G | |
| XM_011527242.1:c.864-214A>G | XP_011525544.1:n.864-214A>G | |
| NM_000660.6:c.861-214A>G | NP_000651.3:n.861-214A>G | |
| XM_011527242.2:c.864-214A>G | XP_011525544.1:n.864-214A>G | |
| NM_000660.7:c.861-214A>G MANE Select | NP_000651.3:n.861-214A>G |