COSMIC:
COSM146601 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53153514 (SAS)
Genomes Max Group AF
0.5254029 (SAS)
Exomes Max Group AF
0.53102322 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150836413C>G , CM000663.2:g.150836413C>G | GRCh38 |
| NC_000001.10:g.150808889C>G , CM000663.1:g.150808889C>G | GRCh37 |
| NC_000001.9:g.149075513C>G | NCBI36 |
| NG_028248.1:g.45356G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358595.10:c.567G>C MANE Select | ENSP00000351407.5:p.Val189= | |
| ENST00000354396.6:c.567G>C | ENSP00000346372.2:p.Val189= | |
| ENST00000358595.9:c.567G>C | ENSP00000351407.5:p.Val189= | |
| ENST00000468970.1:n.87G>C | ||
| ENST00000471844.6:c.567G>C | ENSP00000425899.1:p.Val189= | |
| ENST00000505755.5:c.522G>C | ENSP00000427571.1:p.Val174= | |
| ENST00000515192.5:c.540G>C | ENSP00000423851.1:p.Val180= | |
| NM_001197325.1:c.522G>C | NP_001184254.1:p.Val174= | |
| NM_001286035.1:c.540G>C | NP_001272964.1:p.Val180= | |
| NM_001286036.1:c.567G>C | NP_001272965.1:p.Val189= | |
| NM_001668.3:c.567G>C | NP_001659.1:p.Val189= | |
| NM_178427.2:c.522G>C | NP_848514.1:p.Val174= | |
| XM_005245151.1:c.567G>C | XP_005245208.1:p.Val189= | |
| XM_005245153.1:c.567G>C | XP_005245210.1:p.Val189= | |
| XM_005245154.2:c.540G>C | XP_005245211.1:p.Val180= | |
| XM_005245157.1:c.567G>C | XP_005245214.1:p.Val189= | |
| XM_011509542.1:c.564G>C | XP_011507844.1:p.Val188= | |
| XM_011509543.1:c.564G>C | XP_011507845.1:p.Val188= | |
| XM_011509544.1:c.561G>C | XP_011507846.1:p.Val187= | |
| XM_011509545.1:c.519G>C | XP_011507847.1:p.Val173= | |
| XM_011509546.1:c.471G>C | XP_011507848.1:p.Val157= | |
| XM_011509547.1:c.519G>C | XP_011507849.1:p.Val173= | |
| NM_001350224.1:c.540G>C | NP_001337153.1:p.Val180= | |
| NM_001350225.1:c.564G>C | NP_001337154.1:p.Val188= | |
| NM_001350226.1:c.561G>C | NP_001337155.1:p.Val187= | |
| XM_005245151.2:c.567G>C | XP_005245208.1:p.Val189= | |
| XM_011509543.3:c.564G>C | XP_011507845.1:p.Val188= | |
| XM_011509545.3:c.519G>C | XP_011507847.1:p.Val173= | |
| XM_011509546.2:c.471G>C | XP_011507848.1:p.Val157= | |
| XM_011509547.2:c.519G>C | XP_011507849.1:p.Val173= | |
| XM_017001288.2:c.540G>C | XP_016856777.1:p.Val180= | |
| XM_017001289.1:c.540G>C | XP_016856778.1:p.Val180= | |
| XM_017001290.2:c.495G>C | XP_016856779.1:p.Val165= | |
| XM_017001291.1:c.495G>C | XP_016856780.1:p.Val165= | |
| XM_017001292.1:c.540G>C | XP_016856781.1:p.Val180= | |
| XM_017001293.1:c.495G>C | XP_016856782.1:p.Val165= | |
| XM_017001294.1:c.567G>C | XP_016856783.1:p.Val189= | |
| XM_017001295.1:c.567G>C | XP_016856784.1:p.Val189= | |
| XM_017001296.1:c.522G>C | XP_016856785.1:p.Val174= | |
| NM_001668.4:c.567G>C MANE Select | NP_001659.1:p.Val189= | |
| NM_001197325.2:c.522G>C | NP_001184254.1:p.Val174= | |
| NM_001286035.2:c.540G>C | NP_001272964.1:p.Val180= | |
| NM_001286036.2:c.567G>C | NP_001272965.1:p.Val189= | |
| NM_001350224.2:c.540G>C | NP_001337153.1:p.Val180= | |
| NM_001350225.2:c.564G>C | NP_001337154.1:p.Val188= | |
| NM_001350226.2:c.561G>C | NP_001337155.1:p.Val187= | |
| NM_178427.3:c.522G>C | NP_848514.1:p.Val174= |