Linked Data
dbSNP Id:
rs777780118
ExAC:
7:44185323 C / G
gnomAD v2:
7-44185323-C-G
gnomAD v4:
7-44145724-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145724C>G , CM000669.2:g.44145724C>G | GRCh38 |
| NC_000007.13:g.44185323C>G , CM000669.1:g.44185323C>G | GRCh37 |
| NC_000007.12:g.44151848C>G | NCBI36 |
| NG_008847.1:g.48700G>C | |
| NG_008847.2:g.57447G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1024G>C | ENSP00000379142.4:n.*1024G>C | |
| ENST00000616242.5:c.*146G>C | ENSP00000482149.2:n.*146G>C | |
| ENST00000683378.1:n.252G>C | ||
| ENST00000336642.9:c.60G>C | ENSP00000338009.5:p.Thr20= | |
| ENST00000345378.7:c.1029G>C | ENSP00000223366.2:p.Thr343= | |
| ENST00000403799.8:c.1026G>C MANE Select | ENSP00000384247.3:p.Thr342= | |
| ENST00000671824.1:c.1089G>C | ENSP00000500264.1:p.Thr363= | |
| ENST00000672743.1:n.38G>C | ||
| ENST00000673284.1:c.1026G>C | ENSP00000499852.1:p.Thr342= | |
| ENST00000336642.8:c.78G>C | ENSP00000338009.4:p.Thr26= | |
| ENST00000345378.6:c.1029G>C | ENSP00000223366.2:p.Thr343= | |
| ENST00000395796.7:c.1023G>C | ENSP00000379142.3:p.Thr341= | |
| ENST00000403799.7:c.1026G>C | ENSP00000384247.3:p.Thr342= | |
| ENST00000437084.1:c.975G>C | ENSP00000402840.1:p.Thr325= | |
| ENST00000459642.1:n.406G>C | ||
| ENST00000473353.1:n.324G>C | ||
| ENST00000616242.4:c.1023G>C | ENSP00000482149.1:p.Thr341= | |
| NM_000162.3:c.1026G>C | NP_000153.1:p.Thr342= | |
| NM_033507.1:c.1029G>C | NP_277042.1:p.Thr343= | |
| NM_033508.1:c.1023G>C | NP_277043.1:p.Thr341= | |
| NM_000162.4:c.1026G>C | NP_000153.1:p.Thr342= | |
| NM_001354800.1:c.1026G>C | NP_001341729.1:p.Thr342= | |
| NM_001354801.1:c.15G>C | NP_001341730.1:p.Thr5= | |
| NM_001354802.1:c.-115G>C | NP_001341731.1:n.-115G>C | |
| NM_001354803.1:c.60G>C | NP_001341732.1:p.Thr20= | |
| NM_033507.2:c.1029G>C | NP_277042.1:p.Thr343= | |
| NM_033508.2:c.1023G>C | NP_277043.1:p.Thr341= | |
| XM_024446707.1:c.-115G>C | XP_024302475.1:n.-115G>C | |
| NM_000162.5:c.1026G>C MANE Select | NP_000153.1:p.Thr342= | |
| NM_033507.3:c.1029G>C | NP_277042.1:p.Thr343= | |
| NM_033508.3:c.1023G>C | NP_277043.1:p.Thr341= | |
| NM_001354803.2:c.60G>C | NP_001341732.1:p.Thr20= |