Linked Data
ClinVar Variation Id:
264262
ClinVar RCV Id:
RCV002311117
dbSNP Id:
rs574296889
gnomAD v2:
3-123366170-C-T
gnomAD v3:
3-123647323-C-T
gnomAD v4:
3-123647323-C-T
COSMIC:
COSM3784291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123647323C>T , CM000665.2:g.123647323C>T | GRCh38 |
| NC_000003.11:g.123366170C>T , CM000665.1:g.123366170C>T | GRCh37 |
| NC_000003.10:g.124848860C>T | NCBI36 |
| NG_029111.1:g.241980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.4313G>A | ENSP00000320622.6:p.Arg1438Gln | |
| ENST00000508240.2:c.920G>A | ENSP00000422984.2:p.Arg307Gln | |
| ENST00000513111.2:n.650G>A | ||
| ENST00000684879.1:n.2152G>A | ||
| ENST00000685021.1:c.1754G>A | ENSP00000508447.1:p.Arg585Gln | |
| ENST00000685259.1:c.2039G>A | ||
| ENST00000685907.1:n.2301G>A | ||
| ENST00000685953.1:c.920G>A | ENSP00000510593.1:p.Arg307Gln | |
| ENST00000686039.1:c.1904G>A | ||
| ENST00000686245.1:c.1637G>A | ENSP00000509313.1:p.Arg546Gln | |
| ENST00000686406.1:c.4520G>A | ENSP00000509044.1:p.Arg1507Gln | |
| ENST00000686458.1:n.1022G>A | ||
| ENST00000686761.1:c.4520G>A | ENSP00000508758.1:p.Arg1507Gln | |
| ENST00000686822.1:n.4414G>A | ||
| ENST00000687434.1:c.*736G>A | ENSP00000509751.1:n.*736G>A | |
| ENST00000687709.1:n.2575G>A | ||
| ENST00000687848.1:c.4550G>A | ENSP00000508761.1:p.Arg1517Gln | |
| ENST00000688024.1:c.1754G>A | ENSP00000509803.1:p.Arg585Gln | |
| ENST00000688223.1:c.1649+1648G>A | ENSP00000508935.1:n.1649+1648G>A | |
| ENST00000689868.1:n.2248G>A | ||
| ENST00000689918.1:n.595G>A | ||
| ENST00000690086.1:n.621G>A | ||
| ENST00000690167.1:n.2191G>A | ||
| ENST00000690457.1:c.3758G>A | ENSP00000508777.1:p.Arg1253Gln | |
| ENST00000690534.1:n.1041G>A | ||
| ENST00000691933.1:c.2144G>A | ||
| ENST00000692352.1:c.2058G>A | ||
| ENST00000693689.1:c.4313G>A | ENSP00000510503.1:p.Arg1438Gln | |
| ENST00000360304.8:c.4520G>A MANE Select | ENSP00000353452.3:p.Arg1507Gln | |
| ENST00000346322.9:c.4313G>A | ENSP00000320622.5:p.Arg1438Gln | |
| ENST00000354792.9:c.4313G>A | ENSP00000346846.6:p.Arg1438Gln | |
| ENST00000359169.5:c.4520G>A | ENSP00000352088.1:p.Arg1507Gln | |
| ENST00000360304.7:c.4520G>A | ENSP00000353452.3:p.Arg1507Gln | |
| ENST00000360772.7:c.4520G>A | ENSP00000354004.3:p.Arg1507Gln | |
| ENST00000464489.5:c.*4099G>A | ENSP00000417798.1:n.*4099G>A | |
| ENST00000475616.5:c.4520G>A | ENSP00000418335.1:p.Arg1507Gln | |
| ENST00000513111.1:n.232G>A | ||
| ENST00000514895.5:n.94+1648G>A | ||
| NM_053025.3:c.4520G>A | NP_444253.3:p.Arg1507Gln | |
| NM_053026.3:c.4313G>A | NP_444254.3:p.Arg1438Gln | |
| NM_053027.3:c.4520G>A | NP_444255.3:p.Arg1507Gln | |
| NM_053028.3:c.4313G>A | NP_444256.3:p.Arg1438Gln | |
| XM_011512860.1:c.4520G>A | XP_011511162.1:p.Arg1507Gln | |
| XM_011512861.1:c.4415+1648G>A | XP_011511163.1:n.4415+1648G>A | |
| XM_011512862.1:c.3992G>A | XP_011511164.1:p.Arg1331Gln | |
| NM_001321309.1:c.3992G>A | NP_001308238.1:p.Arg1331Gln | |
| XM_011512860.3:c.4550G>A | XP_011511162.2:p.Arg1517Gln | |
| XM_011512861.3:c.4445+1648G>A | XP_011511163.2:n.4445+1648G>A | |
| XM_017006469.2:c.1754G>A | XP_016861958.1:p.Arg585Gln | |
| XM_017006470.2:c.920G>A | XP_016861959.1:p.Arg307Gln | |
| XM_017006471.2:c.920G>A | XP_016861960.1:p.Arg307Gln | |
| XM_024453532.1:c.4550G>A | XP_024309300.1:p.Arg1517Gln | |
| XM_024453533.1:c.4520G>A | XP_024309301.1:p.Arg1507Gln | |
| XM_024453534.1:c.4343G>A | XP_024309302.1:p.Arg1448Gln | |
| XM_024453535.1:c.4313G>A | XP_024309303.1:p.Arg1438Gln | |
| XM_024453536.1:c.4520G>A | XP_024309304.1:p.Arg1507Gln | |
| XM_024453537.1:c.4520G>A | XP_024309305.1:p.Arg1507Gln | |
| NM_001321309.2:c.3992G>A | NP_001308238.1:p.Arg1331Gln | |
| NM_053025.4:c.4520G>A MANE Select | NP_444253.3:p.Arg1507Gln | |
| NM_053026.4:c.4313G>A | NP_444254.3:p.Arg1438Gln | |
| NM_053027.4:c.4520G>A | NP_444255.3:p.Arg1507Gln | |
| NM_053028.4:c.4313G>A | NP_444256.3:p.Arg1438Gln |