Linked Data
dbSNP Id:
rs774099957
ExAC:
12:116420253 A / G
gnomAD v2:
12-116420253-A-G
gnomAD v4:
12-115982448-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982448A>G , CM000674.2:g.115982448A>G | GRCh38 |
| NC_000012.11:g.116420253A>G , CM000674.1:g.116420253A>G | GRCh37 |
| NC_000012.10:g.114904636A>G | NCBI36 |
| NG_023366.1:g.299739T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5111T>C MANE Select | ENSP00000281928.3:p.Met1704Thr | |
| ENST00000549786.2:c.4539T>C | ||
| ENST00000648379.1:n.3479T>C | ||
| ENST00000648737.1:n.4875T>C | ||
| ENST00000648825.1:n.1851T>C | ||
| ENST00000648916.1:n.3122T>C | ||
| ENST00000649146.1:n.2354T>C | ||
| ENST00000649607.1:c.3295T>C | ||
| ENST00000649775.1:c.1600T>C | ||
| ENST00000650226.1:c.5111T>C | ENSP00000496981.1:p.Met1704Thr | |
| ENST00000281928.7:c.5111T>C | ENSP00000281928.3:p.Met1704Thr | |
| ENST00000549786.1:c.475T>C | ||
| ENST00000552340.1:c.143T>C | ENSP00000449876.1:p.Met48Thr | |
| NM_015335.4:c.5111T>C | NP_056150.1:p.Met1704Thr | |
| XM_011538080.1:c.5111T>C | XP_011536382.1:p.Met1704Thr | |
| XM_011538081.1:c.5108T>C | XP_011536383.1:p.Met1703Thr | |
| XM_011538082.1:c.5081T>C | XP_011536384.1:p.Met1694Thr | |
| XM_011538080.2:c.5111T>C | XP_011536382.1:p.Met1704Thr | |
| XM_011538081.2:c.5108T>C | XP_011536383.1:p.Met1703Thr | |
| XM_011538082.2:c.5081T>C | XP_011536384.1:p.Met1694Thr | |
| XM_017019090.1:c.5108T>C | XP_016874579.1:p.Met1703Thr | |
| NM_015335.5:c.5111T>C MANE Select | NP_056150.1:p.Met1704Thr |