COSMIC:
COSM4002195 (not active)
Revel Score:
ENST00000361204 (MANE Select)
0.043
ENST00000457567
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60943453 (AMR)
Genomes Max Group AF
0.57828074 (AFR)
Exomes Max Group AF
0.64248261 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41880738G>C , CM000684.2:g.41880738G>C | GRCh38 |
| NC_000022.10:g.42276742G>C , CM000684.1:g.42276742G>C | GRCh37 |
| NC_000022.9:g.40606688G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710853.1:c.1694G>C | ENSP00000518526.1:p.Gly565Ala | |
| ENST00000361204.9:c.1784G>C MANE Select | ENSP00000354476.4:p.Gly595Ala | |
| ENST00000361204.8:c.1784G>C | ENSP00000354476.4:p.Gly595Ala | |
| ENST00000424354.5:c.1884G>C | ENSP00000395728.1:p.Arg628= | |
| ENST00000612482.4:c.1794G>C | ENSP00000484441.1:p.Arg598= | |
| NM_004599.3:c.1784G>C | NP_004590.2:p.Gly595Ala | |
| NR_103834.1:n.2076G>C | ||
| XM_006724310.1:c.1694G>C | XP_006724373.1:p.Gly565Ala | |
| XM_011530347.1:c.1409G>C | XP_011528649.1:p.Gly470Ala | |
| XM_006724310.3:c.1694G>C | XP_006724373.1:p.Gly565Ala | |
| XM_011530347.2:c.1409G>C | XP_011528649.1:p.Gly470Ala | |
| XM_017028921.2:c.1784G>C | XP_016884410.1:p.Gly595Ala | |
| XM_017028922.2:c.1784G>C | XP_016884411.1:p.Gly595Ala | |
| XR_001755276.2:n.1927G>C | ||
| XR_001755277.2:n.1927G>C | ||
| XR_001755278.2:n.2050G>C | ||
| NM_004599.4:c.1784G>C MANE Select | NP_004590.2:p.Gly595Ala | |
| NR_103834.2:n.2050G>C |