Linked Data
dbSNP Id:
rs1386085483
gnomAD v2:
3-182756867-C-T
gnomAD v3:
3-183039079-C-T
gnomAD v4:
3-183039079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039079C>T , CM000665.2:g.183039079C>T | GRCh38 |
| NC_000003.11:g.182756867C>T , CM000665.1:g.182756867C>T | GRCh37 |
| NC_000003.10:g.184239561C>T | NCBI36 |
| NG_008100.1:g.65499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1324G>A MANE Select | ENSP00000265594.4:p.Ala442Thr | |
| ENST00000265594.8:c.1324G>A | ENSP00000265594.4:p.Ala442Thr | |
| ENST00000476176.5:c.1183G>A | ENSP00000420433.1:p.Ala395Thr | |
| ENST00000492597.5:c.997G>A | ENSP00000419898.1:p.Ala333Thr | |
| ENST00000495767.5:c.*905G>A | ENSP00000419658.1:n.*905G>A | |
| ENST00000497830.5:c.*921G>A | ENSP00000420088.1:n.*921G>A | |
| ENST00000497959.5:c.1210G>A | ENSP00000420648.1:p.Ala404Thr | |
| ENST00000539926.5:c.874G>A | ENSP00000441253.2:p.Ala292Thr | |
| ENST00000610757.4:c.874G>A | ENSP00000480435.1:p.Ala292Thr | |
| ENST00000629669.2:c.1210G>A | ENSP00000486824.1:p.Ala404Thr | |
| NM_001293273.1:c.973G>A | NP_001280202.1:p.Ala325Thr | |
| NM_020166.4:c.1324G>A | NP_064551.3:p.Ala442Thr | |
| NR_120639.1:n.1238G>A | ||
| NR_120640.1:n.1991G>A | ||
| XM_006713702.1:c.997G>A | XP_006713765.1:p.Ala333Thr | |
| XM_011512992.1:c.1210G>A | XP_011511294.1:p.Ala404Thr | |
| XM_011512993.1:c.1324G>A | XP_011511295.1:p.Ala442Thr | |
| XR_241502.2:n.1471G>A | ||
| XR_924159.1:n.1471G>A | ||
| NM_001363880.1:c.997G>A | NP_001350809.1:p.Ala333Thr | |
| XM_011512992.2:c.1210G>A | XP_011511294.1:p.Ala404Thr | |
| XR_001740207.2:n.1447G>A | ||
| XR_001740208.2:n.1447G>A | ||
| XR_001740209.2:n.1417G>A | ||
| XR_001740210.1:n.1277G>A | ||
| XR_002959553.1:n.1447G>A | ||
| XR_002959554.1:n.1447G>A | ||
| XR_241502.3:n.1417G>A | ||
| NM_020166.5:c.1324G>A MANE Select | NP_064551.3:p.Ala442Thr | |
| NM_001293273.2:c.973G>A | NP_001280202.1:p.Ala325Thr | |
| NR_120639.2:n.1147G>A | ||
| NR_120640.2:n.1991G>A |