Linked Data
dbSNP Id:
rs17744121
gnomAD v2:
21-30713598-A-G
gnomAD v3:
21-29341277-A-G
gnomAD v4:
21-29341277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29341277A>G , CM000683.2:g.29341277A>G | GRCh38 |
| NC_000021.8:g.30713598A>G , CM000683.1:g.30713598A>G | GRCh37 |
| NC_000021.7:g.29635469A>G | NCBI36 |
| NG_029658.1:g.47379A>G | |
| NG_029658.2:g.47379A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286800.8:c.1777-1122A>G MANE Select | ENSP00000286800.3:n.1777-1122A>G | |
| ENST00000286800.7:c.1777-1122A>G | ENSP00000286800.3:n.1777-1122A>G | |
| ENST00000399921.5:c.1777-1122A>G | ENSP00000382805.1:n.1777-1122A>G | |
| ENST00000422809.5:c.472+11584A>G | ||
| ENST00000468059.1:c.325+11584A>G | ||
| NM_001186.3:c.1777-1122A>G | NP_001177.1:n.1777-1122A>G | |
| NM_206866.2:c.1777-1122A>G | NP_996749.1:n.1777-1122A>G | |
| NR_027655.2:n.1956-10357A>G | ||
| NM_001186.4:c.1777-1122A>G MANE Select | NP_001177.1:n.1777-1122A>G | |
| NM_206866.3:c.1777-1122A>G | NP_996749.1:n.1777-1122A>G | |
| NR_027655.3:n.1956-10357A>G |