Linked Data
ClinVar Variation Id:
360302
dbSNP Id:
rs377410513
gnomAD v3:
7-44153311-T-C
gnomAD v4:
7-44153311-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153311T>C , CM000669.2:g.44153311T>C | GRCh38 |
| NC_000007.13:g.44192910T>C , CM000669.1:g.44192910T>C | GRCh37 |
| NC_000007.12:g.44159435T>C | NCBI36 |
| NG_008847.1:g.41113A>G | |
| NG_008847.2:g.49860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*196A>G | ENSP00000379142.4:n.*196A>G | |
| ENST00000616242.5:c.198A>G | ENSP00000482149.2:p.Pro66= | |
| ENST00000682635.1:n.684A>G | ||
| ENST00000345378.7:c.201A>G | ENSP00000223366.2:p.Pro67= | |
| ENST00000403799.8:c.198A>G MANE Select | ENSP00000384247.3:p.Pro66= | |
| ENST00000671824.1:c.198A>G | ENSP00000500264.1:p.Pro66= | |
| ENST00000673284.1:c.198A>G | ENSP00000499852.1:p.Pro66= | |
| ENST00000345378.6:c.201A>G | ENSP00000223366.2:p.Pro67= | |
| ENST00000395796.7:c.195A>G | ENSP00000379142.3:p.Pro65= | |
| ENST00000403799.7:c.198A>G | ENSP00000384247.3:p.Pro66= | |
| ENST00000437084.1:c.198A>G | ENSP00000402840.1:p.Pro66= | |
| ENST00000616242.4:c.195A>G | ENSP00000482149.1:p.Pro65= | |
| NM_000162.3:c.198A>G | NP_000153.1:p.Pro66= | |
| NM_033507.1:c.201A>G | NP_277042.1:p.Pro67= | |
| NM_033508.1:c.195A>G | NP_277043.1:p.Pro65= | |
| NM_000162.4:c.198A>G | NP_000153.1:p.Pro66= | |
| NM_001354800.1:c.198A>G | NP_001341729.1:p.Pro66= | |
| NM_033507.2:c.201A>G | NP_277042.1:p.Pro67= | |
| NM_033508.2:c.195A>G | NP_277043.1:p.Pro65= | |
| NM_000162.5:c.198A>G MANE Select | NP_000153.1:p.Pro66= | |
| NM_033507.3:c.201A>G | NP_277042.1:p.Pro67= | |
| NM_033508.3:c.195A>G | NP_277043.1:p.Pro65= |