Linked Data
dbSNP Id:
rs376328650
ExAC:
12:116420162 G / C
gnomAD v2:
12-116420162-G-C
gnomAD v3:
12-115982357-G-C
gnomAD v4:
12-115982357-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982357G>C , CM000674.2:g.115982357G>C | GRCh38 |
| NC_000012.11:g.116420162G>C , CM000674.1:g.116420162G>C | GRCh37 |
| NC_000012.10:g.114904545G>C | NCBI36 |
| NG_023366.1:g.299830C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5175+27C>G MANE Select | ENSP00000281928.3:n.5175+27C>G | |
| ENST00000549786.2:c.4630C>G | ||
| ENST00000648379.1:n.3543+27C>G | ||
| ENST00000648737.1:n.4939+27C>G | ||
| ENST00000648825.1:n.1942C>G | ||
| ENST00000648916.1:n.3186+27C>G | ||
| ENST00000649146.1:n.2445C>G | ||
| ENST00000649607.1:c.3359+27C>G | ||
| ENST00000649775.1:c.1664+27C>G | ||
| ENST00000650226.1:c.5175+27C>G | ENSP00000496981.1:n.5175+27C>G | |
| ENST00000281928.7:c.5175+27C>G | ENSP00000281928.3:n.5175+27C>G | |
| ENST00000549786.1:c.566C>G | ||
| ENST00000552340.1:c.207+27C>G | ENSP00000449876.1:n.207+27C>G | |
| NM_015335.4:c.5175+27C>G | NP_056150.1:n.5175+27C>G | |
| XM_011538080.1:c.5175+27C>G | XP_011536382.1:n.5175+27C>G | |
| XM_011538081.1:c.5172+27C>G | XP_011536383.1:n.5172+27C>G | |
| XM_011538082.1:c.5145+27C>G | XP_011536384.1:n.5145+27C>G | |
| XM_011538080.2:c.5175+27C>G | XP_011536382.1:n.5175+27C>G | |
| XM_011538081.2:c.5172+27C>G | XP_011536383.1:n.5172+27C>G | |
| XM_011538082.2:c.5145+27C>G | XP_011536384.1:n.5145+27C>G | |
| XM_017019090.1:c.5172+27C>G | XP_016874579.1:n.5172+27C>G | |
| NM_015335.5:c.5175+27C>G MANE Select | NP_056150.1:n.5175+27C>G |