Linked Data
dbSNP Id:
rs749208290
ExAC:
7:44185324 G / C
gnomAD v2:
7-44185324-G-C
gnomAD v3:
7-44145725-G-C
gnomAD v4:
7-44145725-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145725G>C , CM000669.2:g.44145725G>C | GRCh38 |
| NC_000007.13:g.44185324G>C , CM000669.1:g.44185324G>C | GRCh37 |
| NC_000007.12:g.44151849G>C | NCBI36 |
| NG_008847.1:g.48699C>G | |
| NG_008847.2:g.57446C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1023C>G | ENSP00000379142.4:n.*1023C>G | |
| ENST00000616242.5:c.*145C>G | ENSP00000482149.2:n.*145C>G | |
| ENST00000683378.1:n.251C>G | ||
| ENST00000336642.9:c.59C>G | ENSP00000338009.5:p.Thr20Arg | |
| ENST00000345378.7:c.1028C>G | ENSP00000223366.2:p.Thr343Arg | |
| ENST00000403799.8:c.1025C>G MANE Select | ENSP00000384247.3:p.Thr342Arg | |
| ENST00000671824.1:c.1088C>G | ENSP00000500264.1:p.Thr363Arg | |
| ENST00000672743.1:n.37C>G | ||
| ENST00000673284.1:c.1025C>G | ENSP00000499852.1:p.Thr342Arg | |
| ENST00000336642.8:c.77C>G | ENSP00000338009.4:p.Thr26Arg | |
| ENST00000345378.6:c.1028C>G | ENSP00000223366.2:p.Thr343Arg | |
| ENST00000395796.7:c.1022C>G | ENSP00000379142.3:p.Thr341Arg | |
| ENST00000403799.7:c.1025C>G | ENSP00000384247.3:p.Thr342Arg | |
| ENST00000437084.1:c.974C>G | ENSP00000402840.1:p.Thr325Arg | |
| ENST00000459642.1:n.405C>G | ||
| ENST00000473353.1:n.323C>G | ||
| ENST00000616242.4:c.1022C>G | ENSP00000482149.1:p.Thr341Arg | |
| NM_000162.3:c.1025C>G | NP_000153.1:p.Thr342Arg | |
| NM_033507.1:c.1028C>G | NP_277042.1:p.Thr343Arg | |
| NM_033508.1:c.1022C>G | NP_277043.1:p.Thr341Arg | |
| NM_000162.4:c.1025C>G | NP_000153.1:p.Thr342Arg | |
| NM_001354800.1:c.1025C>G | NP_001341729.1:p.Thr342Arg | |
| NM_001354801.1:c.14C>G | NP_001341730.1:p.Thr5Arg | |
| NM_001354802.1:c.-116C>G | NP_001341731.1:n.-116C>G | |
| NM_001354803.1:c.59C>G | NP_001341732.1:p.Thr20Arg | |
| NM_033507.2:c.1028C>G | NP_277042.1:p.Thr343Arg | |
| NM_033508.2:c.1022C>G | NP_277043.1:p.Thr341Arg | |
| XM_024446707.1:c.-116C>G | XP_024302475.1:n.-116C>G | |
| NM_000162.5:c.1025C>G MANE Select | NP_000153.1:p.Thr342Arg | |
| NM_033507.3:c.1028C>G | NP_277042.1:p.Thr343Arg | |
| NM_033508.3:c.1022C>G | NP_277043.1:p.Thr341Arg | |
| NM_001354803.2:c.59C>G | NP_001341732.1:p.Thr20Arg |