Linked Data
dbSNP Id:
rs759359909
ExAC:
3:182756886 C / A
gnomAD v2:
3-182756886-C-A
gnomAD v4:
3-183039098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039098C>A , CM000665.2:g.183039098C>A | GRCh38 |
| NC_000003.11:g.182756886C>A , CM000665.1:g.182756886C>A | GRCh37 |
| NC_000003.10:g.184239580C>A | NCBI36 |
| NG_008100.1:g.65480G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1305G>T MANE Select | ENSP00000265594.4:p.Ala435= | |
| ENST00000265594.8:c.1305G>T | ENSP00000265594.4:p.Ala435= | |
| ENST00000476176.5:c.1164G>T | ENSP00000420433.1:p.Ala388= | |
| ENST00000492597.5:c.978G>T | ENSP00000419898.1:p.Ala326= | |
| ENST00000495767.5:c.*886G>T | ENSP00000419658.1:n.*886G>T | |
| ENST00000497830.5:c.*902G>T | ENSP00000420088.1:n.*902G>T | |
| ENST00000497959.5:c.1191G>T | ENSP00000420648.1:p.Ala397= | |
| ENST00000539926.5:c.855G>T | ENSP00000441253.2:p.Ala285= | |
| ENST00000610757.4:c.855G>T | ENSP00000480435.1:p.Ala285= | |
| ENST00000629669.2:c.1191G>T | ENSP00000486824.1:p.Ala397= | |
| NM_001293273.1:c.954G>T | NP_001280202.1:p.Ala318= | |
| NM_020166.4:c.1305G>T | NP_064551.3:p.Ala435= | |
| NR_120639.1:n.1219G>T | ||
| NR_120640.1:n.1972G>T | ||
| XM_006713702.1:c.978G>T | XP_006713765.1:p.Ala326= | |
| XM_011512992.1:c.1191G>T | XP_011511294.1:p.Ala397= | |
| XM_011512993.1:c.1305G>T | XP_011511295.1:p.Ala435= | |
| XR_241502.2:n.1452G>T | ||
| XR_924159.1:n.1452G>T | ||
| NM_001363880.1:c.978G>T | NP_001350809.1:p.Ala326= | |
| XM_011512992.2:c.1191G>T | XP_011511294.1:p.Ala397= | |
| XR_001740207.2:n.1428G>T | ||
| XR_001740208.2:n.1428G>T | ||
| XR_001740209.2:n.1398G>T | ||
| XR_001740210.1:n.1258G>T | ||
| XR_002959553.1:n.1428G>T | ||
| XR_002959554.1:n.1428G>T | ||
| XR_241502.3:n.1398G>T | ||
| NM_020166.5:c.1305G>T MANE Select | NP_064551.3:p.Ala435= | |
| NM_001293273.2:c.954G>T | NP_001280202.1:p.Ala318= | |
| NR_120639.2:n.1128G>T | ||
| NR_120640.2:n.1972G>T |