Linked Data
dbSNP Id:
rs996412211
gnomAD v2:
12-116420037-G-A
gnomAD v3:
12-115982232-G-A
gnomAD v4:
12-115982232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982232G>A , CM000674.2:g.115982232G>A | GRCh38 |
| NC_000012.11:g.116420037G>A , CM000674.1:g.116420037G>A | GRCh37 |
| NC_000012.10:g.114904420G>A | NCBI36 |
| NG_023366.1:g.299955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5175+152C>T MANE Select | ENSP00000281928.3:n.5175+152C>T | |
| ENST00000549786.2:c.4755C>T | ||
| ENST00000648379.1:n.3543+152C>T | ||
| ENST00000648737.1:n.4939+152C>T | ||
| ENST00000648825.1:n.2067C>T | ||
| ENST00000648916.1:n.3186+152C>T | ||
| ENST00000649146.1:n.2570C>T | ||
| ENST00000649607.1:c.3359+152C>T | ||
| ENST00000649775.1:c.1664+152C>T | ||
| ENST00000650226.1:c.5175+152C>T | ENSP00000496981.1:n.5175+152C>T | |
| ENST00000281928.7:c.5175+152C>T | ENSP00000281928.3:n.5175+152C>T | |
| ENST00000549786.1:c.691C>T | ||
| ENST00000552340.1:c.207+152C>T | ENSP00000449876.1:n.207+152C>T | |
| NM_015335.4:c.5175+152C>T | NP_056150.1:n.5175+152C>T | |
| XM_011538080.1:c.5175+152C>T | XP_011536382.1:n.5175+152C>T | |
| XM_011538081.1:c.5172+152C>T | XP_011536383.1:n.5172+152C>T | |
| XM_011538082.1:c.5145+152C>T | XP_011536384.1:n.5145+152C>T | |
| XM_011538080.2:c.5175+152C>T | XP_011536382.1:n.5175+152C>T | |
| XM_011538081.2:c.5172+152C>T | XP_011536383.1:n.5172+152C>T | |
| XM_011538082.2:c.5145+152C>T | XP_011536384.1:n.5145+152C>T | |
| XM_017019090.1:c.5172+152C>T | XP_016874579.1:n.5172+152C>T | |
| NM_015335.5:c.5175+152C>T MANE Select | NP_056150.1:n.5175+152C>T |