Linked Data
dbSNP Id:
rs1276651129
gnomAD v2:
7-44184782-G-A
gnomAD v3:
7-44145183-G-A
gnomAD v4:
7-44145183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145183G>A , CM000669.2:g.44145183G>A | GRCh38 |
| NC_000007.13:g.44184782G>A , CM000669.1:g.44184782G>A | GRCh37 |
| NC_000007.12:g.44151307G>A | NCBI36 |
| NG_008847.1:g.49241C>T | |
| NG_008847.2:g.57988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1349C>T | ENSP00000379142.4:n.*1349C>T | |
| ENST00000616242.5:c.*471C>T | ENSP00000482149.2:n.*471C>T | |
| ENST00000683378.1:n.577C>T | ||
| ENST00000336642.9:c.385C>T | ENSP00000338009.5:p.Leu129= | |
| ENST00000345378.7:c.1354C>T | ENSP00000223366.2:p.Leu452= | |
| ENST00000403799.8:c.1351C>T MANE Select | ENSP00000384247.3:p.Leu451= | |
| ENST00000671824.1:c.1414C>T | ENSP00000500264.1:p.Leu472= | |
| ENST00000672743.1:n.363C>T | ||
| ENST00000673284.1:c.1351C>T | ENSP00000499852.1:p.Leu451= | |
| ENST00000336642.8:c.403C>T | ENSP00000338009.4:p.Leu135= | |
| ENST00000345378.6:c.1354C>T | ENSP00000223366.2:p.Leu452= | |
| ENST00000395796.7:c.1348C>T | ENSP00000379142.3:p.Leu450= | |
| ENST00000403799.7:c.1351C>T | ENSP00000384247.3:p.Leu451= | |
| ENST00000437084.1:c.1300C>T | ENSP00000402840.1:p.Leu434= | |
| ENST00000459642.1:n.731C>T | ||
| ENST00000616242.4:c.1348C>T | ENSP00000482149.1:p.Leu450= | |
| NM_000162.3:c.1351C>T | NP_000153.1:p.Leu451= | |
| NM_033507.1:c.1354C>T | NP_277042.1:p.Leu452= | |
| NM_033508.1:c.1348C>T | NP_277043.1:p.Leu450= | |
| NM_000162.4:c.1351C>T | NP_000153.1:p.Leu451= | |
| NM_001354800.1:c.1351C>T | NP_001341729.1:p.Leu451= | |
| NM_001354801.1:c.340C>T | NP_001341730.1:p.Leu114= | |
| NM_001354802.1:c.211C>T | NP_001341731.1:p.Leu71= | |
| NM_001354803.1:c.385C>T | NP_001341732.1:p.Leu129= | |
| NM_033507.2:c.1354C>T | NP_277042.1:p.Leu452= | |
| NM_033508.2:c.1348C>T | NP_277043.1:p.Leu450= | |
| XM_024446707.1:c.211C>T | XP_024302475.1:p.Leu71= | |
| NM_000162.5:c.1351C>T MANE Select | NP_000153.1:p.Leu451= | |
| NM_033507.3:c.1354C>T | NP_277042.1:p.Leu452= | |
| NM_033508.3:c.1348C>T | NP_277043.1:p.Leu450= | |
| NM_001354803.2:c.385C>T | NP_001341732.1:p.Leu129= |