Linked Data
ClinVar Variation Id:
2501351
ClinVar RCV Id:
RCV003227146
dbSNP Id:
rs1183444473
gnomAD v2:
3-123366259-C-A
gnomAD v4:
3-123647412-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123647412C>A , CM000665.2:g.123647412C>A | GRCh38 |
| NC_000003.11:g.123366259C>A , CM000665.1:g.123366259C>A | GRCh37 |
| NC_000003.10:g.124848949C>A | NCBI36 |
| NG_029111.1:g.241891G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.4224G>T | ENSP00000320622.6:p.Gln1408His | |
| ENST00000508240.2:c.831G>T | ENSP00000422984.2:p.Gln277His | |
| ENST00000513111.2:n.561G>T | ||
| ENST00000684879.1:n.2063G>T | ||
| ENST00000685021.1:c.1665G>T | ENSP00000508447.1:p.Gln555His | |
| ENST00000685259.1:c.1950G>T | ||
| ENST00000685907.1:n.2212G>T | ||
| ENST00000685953.1:c.831G>T | ENSP00000510593.1:p.Gln277His | |
| ENST00000686039.1:c.1815G>T | ||
| ENST00000686245.1:c.1548G>T | ENSP00000509313.1:p.Gln516His | |
| ENST00000686406.1:c.4431G>T | ENSP00000509044.1:p.Gln1477His | |
| ENST00000686458.1:n.933G>T | ||
| ENST00000686761.1:c.4431G>T | ENSP00000508758.1:p.Gln1477His | |
| ENST00000686822.1:n.4325G>T | ||
| ENST00000687434.1:c.*647G>T | ENSP00000509751.1:n.*647G>T | |
| ENST00000687709.1:n.2486G>T | ||
| ENST00000687848.1:c.4461G>T | ENSP00000508761.1:p.Gln1487His | |
| ENST00000688024.1:c.1665G>T | ENSP00000509803.1:p.Gln555His | |
| ENST00000688223.1:c.1649+1559G>T | ENSP00000508935.1:n.1649+1559G>T | |
| ENST00000689868.1:n.2159G>T | ||
| ENST00000689918.1:n.506G>T | ||
| ENST00000690086.1:n.532G>T | ||
| ENST00000690167.1:n.2102G>T | ||
| ENST00000690457.1:c.3669G>T | ENSP00000508777.1:p.Gln1223His | |
| ENST00000690534.1:n.952G>T | ||
| ENST00000691933.1:c.2055G>T | ||
| ENST00000692352.1:c.1969G>T | ||
| ENST00000693689.1:c.4224G>T | ENSP00000510503.1:p.Gln1408His | |
| ENST00000360304.8:c.4431G>T MANE Select | ENSP00000353452.3:p.Gln1477His | |
| ENST00000346322.9:c.4224G>T | ENSP00000320622.5:p.Gln1408His | |
| ENST00000354792.9:c.4224G>T | ENSP00000346846.6:p.Gln1408His | |
| ENST00000359169.5:c.4431G>T | ENSP00000352088.1:p.Gln1477His | |
| ENST00000360304.7:c.4431G>T | ENSP00000353452.3:p.Gln1477His | |
| ENST00000360772.7:c.4431G>T | ENSP00000354004.3:p.Gln1477His | |
| ENST00000464489.5:c.*4010G>T | ENSP00000417798.1:n.*4010G>T | |
| ENST00000475616.5:c.4431G>T | ENSP00000418335.1:p.Gln1477His | |
| ENST00000513111.1:n.143G>T | ||
| ENST00000514895.5:n.94+1559G>T | ||
| NM_053025.3:c.4431G>T | NP_444253.3:p.Gln1477His | |
| NM_053026.3:c.4224G>T | NP_444254.3:p.Gln1408His | |
| NM_053027.3:c.4431G>T | NP_444255.3:p.Gln1477His | |
| NM_053028.3:c.4224G>T | NP_444256.3:p.Gln1408His | |
| XM_011512860.1:c.4431G>T | XP_011511162.1:p.Gln1477His | |
| XM_011512861.1:c.4415+1559G>T | XP_011511163.1:n.4415+1559G>T | |
| XM_011512862.1:c.3903G>T | XP_011511164.1:p.Gln1301His | |
| NM_001321309.1:c.3903G>T | NP_001308238.1:p.Gln1301His | |
| XM_011512860.3:c.4461G>T | XP_011511162.2:p.Gln1487His | |
| XM_011512861.3:c.4445+1559G>T | XP_011511163.2:n.4445+1559G>T | |
| XM_017006469.2:c.1665G>T | XP_016861958.1:p.Gln555His | |
| XM_017006470.2:c.831G>T | XP_016861959.1:p.Gln277His | |
| XM_017006471.2:c.831G>T | XP_016861960.1:p.Gln277His | |
| XM_024453532.1:c.4461G>T | XP_024309300.1:p.Gln1487His | |
| XM_024453533.1:c.4431G>T | XP_024309301.1:p.Gln1477His | |
| XM_024453534.1:c.4254G>T | XP_024309302.1:p.Gln1418His | |
| XM_024453535.1:c.4224G>T | XP_024309303.1:p.Gln1408His | |
| XM_024453536.1:c.4431G>T | XP_024309304.1:p.Gln1477His | |
| XM_024453537.1:c.4431G>T | XP_024309305.1:p.Gln1477His | |
| NM_001321309.2:c.3903G>T | NP_001308238.1:p.Gln1301His | |
| NM_053025.4:c.4431G>T MANE Select | NP_444253.3:p.Gln1477His | |
| NM_053026.4:c.4224G>T | NP_444254.3:p.Gln1408His | |
| NM_053027.4:c.4431G>T | NP_444255.3:p.Gln1477His | |
| NM_053028.4:c.4224G>T | NP_444256.3:p.Gln1408His |