Linked Data
dbSNP Id:
rs1426796398
gnomAD v2:
12-116422220-C-A
gnomAD v3:
12-115984415-C-A
gnomAD v4:
12-115984415-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115984415C>A , CM000674.2:g.115984415C>A | GRCh38 |
| NC_000012.11:g.116422220C>A , CM000674.1:g.116422220C>A | GRCh37 |
| NC_000012.10:g.114906603C>A | NCBI36 |
| NG_023366.1:g.297772G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.4339-43G>T MANE Select | ENSP00000281928.3:n.4339-43G>T | |
| ENST00000549786.2:c.3767-43G>T | ||
| ENST00000648379.1:n.2707-43G>T | ||
| ENST00000648737.1:n.4103-43G>T | ||
| ENST00000648825.1:n.1079-43G>T | ||
| ENST00000648916.1:n.2350-43G>T | ||
| ENST00000649146.1:n.1026G>T | ||
| ENST00000649607.1:c.2523-43G>T | ||
| ENST00000649775.1:c.836-43G>T | ||
| ENST00000650091.1:n.2315-43G>T | ||
| ENST00000650226.1:c.4339-43G>T | ENSP00000496981.1:n.4339-43G>T | |
| ENST00000281928.7:c.4339-43G>T | ENSP00000281928.3:n.4339-43G>T | |
| NM_015335.4:c.4339-43G>T | NP_056150.1:n.4339-43G>T | |
| XM_011538080.1:c.4339-43G>T | XP_011536382.1:n.4339-43G>T | |
| XM_011538081.1:c.4336-43G>T | XP_011536383.1:n.4336-43G>T | |
| XM_011538082.1:c.4309-43G>T | XP_011536384.1:n.4309-43G>T | |
| XM_011538080.2:c.4339-43G>T | XP_011536382.1:n.4339-43G>T | |
| XM_011538081.2:c.4336-43G>T | XP_011536383.1:n.4336-43G>T | |
| XM_011538082.2:c.4309-43G>T | XP_011536384.1:n.4309-43G>T | |
| XM_017019090.1:c.4336-43G>T | XP_016874579.1:n.4336-43G>T | |
| NM_015335.5:c.4339-43G>T MANE Select | NP_056150.1:n.4339-43G>T |