Linked Data
dbSNP Id:
rs749097393
ExAC:
7:44192946 A / G
gnomAD v2:
7-44192946-A-G
gnomAD v3:
7-44153347-A-G
gnomAD v4:
7-44153347-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153347A>G , CM000669.2:g.44153347A>G | GRCh38 |
| NC_000007.13:g.44192946A>G , CM000669.1:g.44192946A>G | GRCh37 |
| NC_000007.12:g.44159471A>G | NCBI36 |
| NG_008847.1:g.41077T>C | |
| NG_008847.2:g.49824T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*160T>C | ENSP00000379142.4:n.*160T>C | |
| ENST00000616242.5:c.162T>C | ENSP00000482149.2:p.Ser54= | |
| ENST00000682635.1:n.648T>C | ||
| ENST00000345378.7:c.165T>C | ENSP00000223366.2:p.Ser55= | |
| ENST00000403799.8:c.162T>C MANE Select | ENSP00000384247.3:p.Ser54= | |
| ENST00000671824.1:c.162T>C | ENSP00000500264.1:p.Ser54= | |
| ENST00000673284.1:c.162T>C | ENSP00000499852.1:p.Ser54= | |
| ENST00000345378.6:c.165T>C | ENSP00000223366.2:p.Ser55= | |
| ENST00000395796.7:c.159T>C | ENSP00000379142.3:p.Ser53= | |
| ENST00000403799.7:c.162T>C | ENSP00000384247.3:p.Ser54= | |
| ENST00000437084.1:c.162T>C | ENSP00000402840.1:p.Ser54= | |
| ENST00000616242.4:c.159T>C | ENSP00000482149.1:p.Ser53= | |
| NM_000162.3:c.162T>C | NP_000153.1:p.Ser54= | |
| NM_033507.1:c.165T>C | NP_277042.1:p.Ser55= | |
| NM_033508.1:c.159T>C | NP_277043.1:p.Ser53= | |
| NM_000162.4:c.162T>C | NP_000153.1:p.Ser54= | |
| NM_001354800.1:c.162T>C | NP_001341729.1:p.Ser54= | |
| NM_033507.2:c.165T>C | NP_277042.1:p.Ser55= | |
| NM_033508.2:c.159T>C | NP_277043.1:p.Ser53= | |
| NM_000162.5:c.162T>C MANE Select | NP_000153.1:p.Ser54= | |
| NM_033507.3:c.165T>C | NP_277042.1:p.Ser55= | |
| NM_033508.3:c.159T>C | NP_277043.1:p.Ser53= |