Linked Data
dbSNP Id:
rs146963536
gnomAD v2:
12-102179558-G-A
gnomAD v3:
12-101785780-G-A
gnomAD v4:
12-101785780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101785780G>A , CM000674.2:g.101785780G>A | GRCh38 |
| NC_000012.11:g.102179558G>A , CM000674.1:g.102179558G>A | GRCh37 |
| NC_000012.10:g.100703689G>A | NCBI36 |
| NG_021243.1:g.50088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.571+232C>T MANE Select | ENSP00000299314.7:n.571+232C>T | |
| ENST00000299314.11:c.571+232C>T | ENSP00000299314.7:n.571+232C>T | |
| ENST00000549940.5:c.571+232C>T | ENSP00000449150.1:n.571+232C>T | |
| ENST00000550352.1:n.597C>T | ||
| ENST00000552681.1:c.205+232C>T | ENSP00000449217.1:n.205+232C>T | |
| NM_024312.4:c.571+232C>T | NP_077288.2:n.571+232C>T | |
| XM_006719593.2:c.571+232C>T | XP_006719656.1:n.571+232C>T | |
| XM_011538731.1:c.490+232C>T | XP_011537033.1:n.490+232C>T | |
| XM_006719593.3:c.571+232C>T | XP_006719656.1:n.571+232C>T | |
| XM_011538731.2:c.490+232C>T | XP_011537033.1:n.490+232C>T | |
| XM_017019961.1:c.355+232C>T | XP_016875450.1:n.355+232C>T | |
| XM_017019962.2:c.-780+232C>T | XP_016875451.1:n.-780+232C>T | |
| NM_024312.5:c.571+232C>T MANE Select | NP_077288.2:n.571+232C>T |