Linked Data
dbSNP Id:
rs746522055
ExAC:
12:116434481 A / C
gnomAD v2:
12-116434481-A-C
gnomAD v4:
12-115996676-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115996676A>C , CM000674.2:g.115996676A>C | GRCh38 |
| NC_000012.11:g.116434481A>C , CM000674.1:g.116434481A>C | GRCh37 |
| NC_000012.10:g.114918864A>C | NCBI36 |
| NG_023366.1:g.285511T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2796T>G MANE Select | ENSP00000281928.3:p.Phe932Leu | |
| ENST00000548743.2:c.2766T>G | ENSP00000448553.2:p.Phe922Leu | |
| ENST00000549786.2:c.2224T>G | ||
| ENST00000647927.1:n.3169T>G | ||
| ENST00000648173.1:n.1591T>G | ||
| ENST00000648379.1:n.1164T>G | ||
| ENST00000648737.1:n.2560T>G | ||
| ENST00000648916.1:n.807T>G | ||
| ENST00000649607.1:c.980T>G | ||
| ENST00000650226.1:c.2796T>G | ENSP00000496981.1:p.Phe932Leu | |
| ENST00000281928.7:c.2796T>G | ENSP00000281928.3:p.Phe932Leu | |
| NM_015335.4:c.2796T>G | NP_056150.1:p.Phe932Leu | |
| XM_011538080.1:c.2796T>G | XP_011536382.1:p.Phe932Leu | |
| XM_011538081.1:c.2793T>G | XP_011536383.1:p.Phe931Leu | |
| XM_011538082.1:c.2766T>G | XP_011536384.1:p.Phe922Leu | |
| XM_011538080.2:c.2796T>G | XP_011536382.1:p.Phe932Leu | |
| XM_011538081.2:c.2793T>G | XP_011536383.1:p.Phe931Leu | |
| XM_011538082.2:c.2766T>G | XP_011536384.1:p.Phe922Leu | |
| XM_017019090.1:c.2793T>G | XP_016874579.1:p.Phe931Leu | |
| NM_015335.5:c.2796T>G MANE Select | NP_056150.1:p.Phe932Leu |