Linked Data
dbSNP Id:
rs138497622
ExAC:
2:32353518 T / C
gnomAD v2:
2-32353518-T-C
gnomAD v3:
2-32128449-T-C
gnomAD v4:
2-32128449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128449T>C , CM000664.2:g.32128449T>C | GRCh38 |
| NC_000002.11:g.32353518T>C , CM000664.1:g.32353518T>C | GRCh37 |
| NC_000002.10:g.32207022T>C | NCBI36 |
| NG_008730.1:g.69839T>C , LRG_714:g.69839T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*875T>C | ENSP00000515816.1:n.*875T>C | |
| ENST00000315285.9:c.1215T>C MANE Select | ENSP00000320885.3:p.Asn405= | |
| ENST00000621856.2:c.1212T>C | ENSP00000482496.2:p.Asn404= | |
| ENST00000642281.1:c.983-8114T>C | ||
| ENST00000642455.1:c.1116T>C | ENSP00000493827.1:p.Asn372= | |
| ENST00000642751.1:c.989T>C | ||
| ENST00000642999.1:c.957T>C | ENSP00000496589.1:p.Asn319= | |
| ENST00000643327.1:c.374T>C | ||
| ENST00000643334.1:c.795T>C | ||
| ENST00000644408.1:c.1091T>C | ||
| ENST00000644954.1:c.861T>C | ENSP00000494312.1:p.Asn287= | |
| ENST00000645159.1:n.1952T>C | ||
| ENST00000645550.1:n.428T>C | ||
| ENST00000645671.1:c.665T>C | ||
| ENST00000645730.1:c.562T>C | ||
| ENST00000646082.1:c.861T>C | ||
| ENST00000646571.1:c.1119T>C | ENSP00000495015.1:p.Asn373= | |
| ENST00000647007.1:n.907T>C | ||
| ENST00000647133.1:c.715T>C | ||
| ENST00000315285.7:c.1215T>C | ENSP00000320885.3:p.Asn405= | |
| ENST00000345662.5:c.1119T>C | ENSP00000340817.1:p.Asn373= | |
| ENST00000615843.4:c.1215T>C | ENSP00000480893.1:p.Asn405= | |
| ENST00000621856.1:c.957T>C | ENSP00000482496.1:p.Asn319= | |
| NM_014946.3:c.1215T>C , LRG_714t1:c.1215T>C | NP_055761.2:p.Asn405= | |
| NM_199436.1:c.1119T>C | NP_955468.1:p.Asn373= | |
| XM_005264516.3:c.1212T>C | XP_005264573.1:p.Asn404= | |
| XM_011533067.1:c.1215T>C | XP_011531369.1:p.Asn405= | |
| NM_001363823.1:c.1212T>C | NP_001350752.1:p.Asn404= | |
| NM_001363875.1:c.1116T>C | NP_001350804.1:p.Asn372= | |
| XM_005264516.5:c.1212T>C | XP_005264573.1:p.Asn404= | |
| XM_011533067.2:c.1215T>C | XP_011531369.1:p.Asn405= | |
| XM_017004778.2:c.1119T>C | XP_016860267.1:p.Asn373= | |
| NM_001363823.2:c.1212T>C | NP_001350752.1:p.Asn404= | |
| NM_001363875.2:c.1116T>C | NP_001350804.1:p.Asn372= | |
| NM_001377959.1:c.1119T>C | NP_001364888.1:p.Asn373= | |
| NM_014946.4:c.1215T>C MANE Select | NP_055761.2:p.Asn405= | |
| NM_199436.2:c.1119T>C | NP_955468.1:p.Asn373= |