Linked Data
ClinVar Variation Id:
1398651
ClinVar RCV Id:
RCV001915166
dbSNP Id:
rs142247122
ExAC:
3:123003492 A / G
gnomAD v2:
3-123003492-A-G
gnomAD v3:
3-123284645-A-G
gnomAD v4:
3-123284645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123284645A>G , CM000665.2:g.123284645A>G | GRCh38 |
| NC_000003.11:g.123003492A>G , CM000665.1:g.123003492A>G | GRCh37 |
| NC_000003.10:g.124486182A>G | NCBI36 |
| NG_033882.1:g.168901T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2426T>C | ENSP00000420082.2:p.Met809Thr | |
| ENST00000470367.2:c.2714T>C | ENSP00000514541.1:p.Met905Thr | |
| ENST00000483566.2:c.2426T>C | ENSP00000420252.2:p.Met809Thr | |
| ENST00000699714.1:c.2426T>C | ENSP00000514539.1:p.Met809Thr | |
| ENST00000699715.1:c.2426T>C | ENSP00000514540.1:p.Met809Thr | |
| ENST00000699716.1:c.2426T>C | ENSP00000514542.1:p.Met809Thr | |
| ENST00000699717.1:n.2152T>C | ||
| ENST00000699718.1:c.3824T>C | ENSP00000514543.1:p.Met1275Thr | |
| ENST00000462833.6:c.3749T>C MANE Select | ENSP00000419361.1:p.Met1250Thr | |
| ENST00000309879.9:c.2699T>C | ENSP00000308685.5:p.Met900Thr | |
| ENST00000462833.5:c.3749T>C | ENSP00000419361.1:p.Met1250Thr | |
| ENST00000478092.1:n.519T>C | ||
| ENST00000491190.5:c.2723T>C | ENSP00000418537.1:p.Met908Thr | |
| NM_001199642.1:c.2699T>C | NP_001186571.1:p.Met900Thr | |
| NM_183357.2:c.3749T>C | NP_899200.1:p.Met1250Thr | |
| XM_005247077.2:c.3824T>C | XP_005247134.1:p.Met1275Thr | |
| XM_005247078.1:c.2774T>C | XP_005247135.1:p.Met925Thr | |
| XM_006713483.1:c.2723T>C | XP_006713546.1:p.Met908Thr | |
| XM_006713484.1:c.2501T>C | XP_006713547.1:p.Met834Thr | |
| XM_011512359.1:c.2825T>C | XP_011510661.1:p.Met942Thr | |
| XM_011512360.1:c.2735T>C | XP_011510662.1:p.Met912Thr | |
| XM_011512361.1:c.2501T>C | XP_011510663.1:p.Met834Thr | |
| XM_005247077.4:c.3824T>C | XP_005247134.1:p.Met1275Thr | |
| XM_011512359.2:c.2825T>C | XP_011510661.1:p.Met942Thr | |
| XM_011512360.3:c.2735T>C | XP_011510662.1:p.Met912Thr | |
| XM_017005638.1:c.2726T>C | XP_016861127.1:p.Met909Thr | |
| XM_017005639.1:c.2726T>C | XP_016861128.1:p.Met909Thr | |
| NM_001378259.1:c.3824T>C | NP_001365188.1:p.Met1275Thr | |
| NM_183357.3:c.3749T>C MANE Select | NP_899200.1:p.Met1250Thr |