Linked Data
dbSNP Id:
rs771524902
gnomAD v2:
13-101944392-A-G
gnomAD v3:
13-101292041-A-G
gnomAD v4:
13-101292041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101292041A>G , CM000675.2:g.101292041A>G | GRCh38 |
| NC_000013.10:g.101944392A>G , CM000675.1:g.101944392A>G | GRCh37 |
| NC_000013.9:g.100742393A>G | NCBI36 |
| NG_053176.1:g.130166T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.996T>C MANE Select | ENSP00000251127.6:p.Phe332= | |
| ENST00000648359.1:c.996T>C | ENSP00000497465.1:p.Phe332= | |
| ENST00000674840.1:n.1094T>C | ||
| ENST00000674904.1:n.1076T>C | ||
| ENST00000675150.1:c.996T>C | ENSP00000502680.1:p.Phe332= | |
| ENST00000675332.1:c.996T>C | ENSP00000501955.1:p.Phe332= | |
| ENST00000675415.1:n.1179T>C | ||
| ENST00000675594.1:c.*433T>C | ENSP00000502490.1:n.*433T>C | |
| ENST00000675802.1:c.996T>C | ENSP00000501818.1:p.Phe332= | |
| ENST00000676315.1:c.996T>C | ENSP00000501603.1:p.Phe332= | |
| ENST00000676439.1:n.1170T>C | ||
| ENST00000251127.10:c.996T>C | ENSP00000251127.6:p.Phe332= | |
| ENST00000470333.1:n.1092T>C | ||
| ENST00000497170.5:n.1150T>C | ||
| NM_052867.2:c.996T>C | NP_443099.1:p.Phe332= | |
| XM_011521067.1:c.1053T>C | XP_011519369.1:p.Phe351= | |
| XM_011521068.1:c.996T>C | XP_011519370.1:p.Phe332= | |
| XM_011521069.1:c.1053T>C | XP_011519371.1:p.Phe351= | |
| XM_011521070.1:c.1053T>C | XP_011519372.1:p.Phe351= | |
| NM_001350748.1:c.996T>C | NP_001337677.1:p.Phe332= | |
| NM_001350749.1:c.996T>C | NP_001337678.1:p.Phe332= | |
| NM_001350750.1:c.996T>C | NP_001337679.1:p.Phe332= | |
| NM_001350751.1:c.996T>C | NP_001337680.1:p.Phe332= | |
| NM_052867.3:c.996T>C | NP_443099.1:p.Phe332= | |
| XM_011521067.2:c.1053T>C | XP_011519369.1:p.Phe351= | |
| XM_011521069.2:c.1053T>C | XP_011519371.1:p.Phe351= | |
| XM_017020536.2:c.549T>C | XP_016876025.1:p.Phe183= | |
| XM_017020537.1:c.231T>C | XP_016876026.1:p.Phe77= | |
| XM_024449336.1:c.1053T>C | XP_024305104.1:p.Phe351= | |
| NM_052867.4:c.996T>C MANE Select | NP_443099.1:p.Phe332= | |
| NM_001350748.2:c.996T>C | NP_001337677.1:p.Phe332= | |
| NM_001350749.2:c.996T>C | NP_001337678.1:p.Phe332= | |
| NM_001350750.2:c.996T>C | NP_001337679.1:p.Phe332= | |
| NM_001350751.2:c.996T>C | NP_001337680.1:p.Phe332= |