Linked Data
dbSNP Id:
rs2096283130
gnomAD v4:
7-44153359-A-G
MyVariant Identifiers:
chr7:g.44192958A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153359A>G , CM000669.2:g.44153359A>G | GRCh38 |
| NC_000007.13:g.44192958A>G , CM000669.1:g.44192958A>G | GRCh37 |
| NC_000007.12:g.44159483A>G | NCBI36 |
| NG_008847.1:g.41065T>C | |
| NG_008847.2:g.49812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*148T>C | ENSP00000379142.4:n.*148T>C | |
| ENST00000616242.5:c.150T>C | ENSP00000482149.2:p.His50= | |
| ENST00000682635.1:n.636T>C | ||
| ENST00000345378.7:c.153T>C | ENSP00000223366.2:p.His51= | |
| ENST00000403799.8:c.150T>C MANE Select | ENSP00000384247.3:p.His50= | |
| ENST00000671824.1:c.150T>C | ENSP00000500264.1:p.His50= | |
| ENST00000673284.1:c.150T>C | ENSP00000499852.1:p.His50= | |
| ENST00000345378.6:c.153T>C | ENSP00000223366.2:p.His51= | |
| ENST00000395796.7:c.147T>C | ENSP00000379142.3:p.His49= | |
| ENST00000403799.7:c.150T>C | ENSP00000384247.3:p.His50= | |
| ENST00000437084.1:c.150T>C | ENSP00000402840.1:p.His50= | |
| ENST00000616242.4:c.147T>C | ENSP00000482149.1:p.His49= | |
| NM_000162.3:c.150T>C | NP_000153.1:p.His50= | |
| NM_033507.1:c.153T>C | NP_277042.1:p.His51= | |
| NM_033508.1:c.147T>C | NP_277043.1:p.His49= | |
| NM_000162.4:c.150T>C | NP_000153.1:p.His50= | |
| NM_001354800.1:c.150T>C | NP_001341729.1:p.His50= | |
| NM_033507.2:c.153T>C | NP_277042.1:p.His51= | |
| NM_033508.2:c.147T>C | NP_277043.1:p.His49= | |
| NM_000162.5:c.150T>C MANE Select | NP_000153.1:p.His50= | |
| NM_033507.3:c.153T>C | NP_277042.1:p.His51= | |
| NM_033508.3:c.147T>C | NP_277043.1:p.His49= |