Linked Data
dbSNP Id:
rs12722489
gnomAD v2:
10-6102012-C-T
gnomAD v3:
10-6060049-C-T
gnomAD v4:
10-6060049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6060049C>T , CM000672.2:g.6060049C>T | GRCh38 |
| NC_000010.10:g.6102012C>T , CM000672.1:g.6102012C>T | GRCh37 |
| NC_000010.9:g.6142018C>T | NCBI36 |
| NG_007403.1:g.7261G>A , LRG_73:g.7261G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447847.2:c.64+2039G>A | ENSP00000402024.2:n.64+2039G>A | |
| ENST00000697424.1:c.64+2039G>A | ENSP00000513307.1:n.64+2039G>A | |
| ENST00000379959.8:c.64+2039G>A MANE Select | ENSP00000369293.3:n.64+2039G>A | |
| ENST00000644262.1:n.279+2043G>A | ||
| ENST00000256876.10:c.64+2039G>A | ENSP00000256876.6:n.64+2039G>A | |
| ENST00000379954.5:c.64+2039G>A | ENSP00000369287.1:n.64+2039G>A | |
| ENST00000379959.7:c.64+2039G>A | ENSP00000369293.3:n.64+2039G>A | |
| NM_000417.2:c.64+2039G>A , LRG_73t1:c.64+2039G>A | NP_000408.1:n.64+2039G>A | |
| NM_001308242.1:c.64+2039G>A | NP_001295171.1:n.64+2039G>A | |
| NM_001308243.1:c.64+2039G>A | NP_001295172.1:n.64+2039G>A | |
| NM_000417.3:c.64+2039G>A MANE Select | NP_000408.1:n.64+2039G>A | |
| NM_001308242.2:c.64+2039G>A | NP_001295171.1:n.64+2039G>A | |
| NM_001308243.2:c.64+2039G>A | NP_001295172.1:n.64+2039G>A |