Linked Data
dbSNP Id:
rs1763618351
gnomAD v3:
5-75426407-T-G
gnomAD v4:
5-75426407-T-G
MyVariant Identifiers:
chr5:g.74722232T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75426407T>G , CM000667.2:g.75426407T>G | GRCh38 |
| NC_000005.9:g.74722232T>G , CM000667.1:g.74722232T>G | GRCh37 |
| NC_000005.8:g.74757988T>G | NCBI36 |
| NG_029492.1:g.90575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647512.2:n.850A>C | ||
| ENST00000261415.12:c.420A>C | ENSP00000261415.8:p.Ala140= | |
| ENST00000380494.10:c.212A>C | ||
| ENST00000405807.10:c.804A>C | ENSP00000383996.4:p.Ala268= | |
| ENST00000642225.1:c.420A>C | ENSP00000493604.1:p.Ala140= | |
| ENST00000642556.1:c.420A>C | ENSP00000496016.1:p.Ala140= | |
| ENST00000642809.1:c.420A>C | ENSP00000494804.1:p.Ala140= | |
| ENST00000643158.1:c.420A>C | ENSP00000496462.1:p.Ala140= | |
| ENST00000643380.1:c.32A>C | ||
| ENST00000643773.1:c.24A>C | ENSP00000493565.1:p.Ala8= | |
| ENST00000643780.2:c.420A>C MANE Select | ENSP00000495760.1:p.Ala140= | |
| ENST00000644072.2:c.420A>C | ENSP00000494110.2:p.Ala140= | |
| ENST00000644377.1:c.420A>C | ENSP00000494810.1:p.Ala140= | |
| ENST00000644445.1:c.420A>C | ENSP00000496243.1:p.Ala140= | |
| ENST00000644516.1:c.420A>C | ENSP00000495430.1:p.Ala140= | |
| ENST00000644912.1:c.420A>C | ENSP00000495172.1:p.Ala140= | |
| ENST00000645483.1:c.420A>C | ENSP00000493563.1:p.Ala140= | |
| ENST00000645866.1:c.420A>C | ENSP00000494424.1:p.Ala140= | |
| ENST00000646302.1:c.420A>C | ENSP00000496472.1:p.Ala140= | |
| ENST00000646511.1:c.420A>C | ENSP00000495446.1:p.Ala140= | |
| ENST00000646713.1:c.420A>C | ENSP00000494968.1:p.Ala140= | |
| ENST00000647512.1:n.633A>C | ||
| ENST00000261415.11:c.420A>C | ENSP00000261415.7:p.Ala140= | |
| ENST00000380494.9:c.804A>C | ENSP00000369862.4:p.Ala268= | |
| ENST00000405807.8:c.420A>C | ENSP00000383996.3:p.Ala140= | |
| NM_001130105.1:c.804A>C | NP_001123577.1:p.Ala268= | |
| NM_005713.2:c.420A>C | NP_005704.1:p.Ala140= | |
| NM_031361.2:c.420A>C | NP_112729.1:p.Ala140= | |
| XM_006714513.1:c.420A>C | XP_006714576.1:p.Ala140= | |
| XM_011543090.1:c.420A>C | XP_011541392.1:p.Ala140= | |
| XM_011543091.1:c.420A>C | XP_011541393.1:p.Ala140= | |
| XM_006714513.3:c.420A>C | XP_006714576.1:p.Ala140= | |
| XM_011543090.3:c.420A>C | XP_011541392.1:p.Ala140= | |
| XM_011543091.3:c.420A>C | XP_011541393.1:p.Ala140= | |
| XM_017008919.2:c.420A>C | XP_016864408.1:p.Ala140= | |
| NM_005713.3:c.420A>C | NP_005704.1:p.Ala140= | |
| NM_031361.3:c.420A>C | NP_112729.1:p.Ala140= | |
| NM_001379002.1:c.420A>C | NP_001365931.1:p.Ala140= | |
| NM_001379003.1:c.420A>C | NP_001365932.1:p.Ala140= | |
| NM_001379004.1:c.420A>C | NP_001365933.1:p.Ala140= | |
| NM_001379029.1:c.420A>C MANE Select | NP_001365958.1:p.Ala140= |