Linked Data
dbSNP Id:
rs756802355
ExAC:
12:116450695 A / G
gnomAD v2:
12-116450695-A-G
gnomAD v4:
12-116012890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012890A>G , CM000674.2:g.116012890A>G | GRCh38 |
| NC_000012.11:g.116450695A>G , CM000674.1:g.116450695A>G | GRCh37 |
| NC_000012.10:g.114935078A>G | NCBI36 |
| NG_023366.1:g.269297T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1187T>C MANE Select | ENSP00000281928.3:p.Met396Thr | |
| ENST00000548743.2:c.1157T>C | ENSP00000448553.2:p.Met386Thr | |
| ENST00000549786.2:c.615T>C | ||
| ENST00000647567.1:c.1094T>C | ENSP00000497136.1:p.Met365Thr | |
| ENST00000648737.1:n.951T>C | ||
| ENST00000650226.1:c.1187T>C | ENSP00000496981.1:p.Met396Thr | |
| ENST00000281928.7:c.1187T>C | ENSP00000281928.3:p.Met396Thr | |
| NM_015335.4:c.1187T>C | NP_056150.1:p.Met396Thr | |
| XM_011538080.1:c.1187T>C | XP_011536382.1:p.Met396Thr | |
| XM_011538081.1:c.1187T>C | XP_011536383.1:p.Met396Thr | |
| XM_011538082.1:c.1157T>C | XP_011536384.1:p.Met386Thr | |
| XM_011538080.2:c.1187T>C | XP_011536382.1:p.Met396Thr | |
| XM_011538081.2:c.1187T>C | XP_011536383.1:p.Met396Thr | |
| XM_011538082.2:c.1157T>C | XP_011536384.1:p.Met386Thr | |
| XM_017019090.1:c.1187T>C | XP_016874579.1:p.Met396Thr | |
| NM_015335.5:c.1187T>C MANE Select | NP_056150.1:p.Met396Thr |