Linked Data
ClinVar Variation Id:
2624444
ClinVar RCV Id:
RCV004364203
dbSNP Id:
rs758542974
ExAC:
10:21185903 G / A
gnomAD v2:
10-21185903-G-A
gnomAD v3:
10-20896974-G-A
gnomAD v4:
10-20896974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20896974G>A , CM000672.2:g.20896974G>A | GRCh38 |
| NC_000010.10:g.21185903G>A , CM000672.1:g.21185903G>A | GRCh37 |
| NC_000010.9:g.21225909G>A | NCBI36 |
| NG_017092.1:g.282214C>T , LRG_411:g.282214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.137C>T MANE Select | ENSP00000366326.4:p.Thr46Met | |
| ENST00000674540.1:n.424C>T | ||
| ENST00000675114.1:n.565+64698C>T | ||
| ENST00000675700.1:n.380+64698C>T | ||
| ENST00000675702.1:n.636+64698C>T | ||
| ENST00000675747.1:n.2499C>T | ||
| ENST00000377119.5:n.147C>T | ||
| ENST00000377122.8:c.137C>T | ENSP00000366326.4:p.Thr46Met | |
| ENST00000417816.2:c.357+64698C>T | ENSP00000393896.2:n.357+64698C>T | |
| ENST00000434381.1:c.89C>T | ENSP00000396512.1:p.Thr30Met | |
| NM_001173484.1:c.357+64698C>T | NP_001166955.1:n.357+64698C>T | |
| NM_006393.2:c.137C>T , LRG_411t2:c.137C>T | NP_006384.1:p.Thr46Met | |
| NM_213569.2:c.357+64698C>T , LRG_411t1:c.357+64698C>T | NP_998734.1:n.357+64698C>T | |
| XM_005252342.3:c.137C>T | XP_005252399.1:p.Thr46Met | |
| XM_005252343.3:c.137C>T | XP_005252400.1:p.Thr46Met | |
| XM_005252344.3:c.137C>T | XP_005252401.1:p.Thr46Met | |
| XM_011519290.1:c.89C>T | XP_011517592.1:p.Thr30Met | |
| XM_011519291.1:c.89C>T | XP_011517593.1:p.Thr30Met | |
| XR_242691.3:n.249C>T | ||
| XM_005252342.5:c.137C>T | XP_005252399.1:p.Thr46Met | |
| XM_005252343.5:c.137C>T | XP_005252400.1:p.Thr46Met | |
| XM_005252344.5:c.137C>T | XP_005252401.1:p.Thr46Met | |
| XM_011519291.2:c.89C>T | XP_011517593.1:p.Thr30Met | |
| XM_017015468.1:c.89C>T | XP_016870957.1:p.Thr30Met | |
| XR_001746995.2:n.1733C>T | ||
| XR_001746996.1:n.452C>T | ||
| XR_242691.5:n.1733C>T | ||
| NM_001173484.2:c.357+64698C>T | NP_001166955.1:n.357+64698C>T | |
| NM_001377322.1:c.357+64698C>T | NP_001364251.1:n.357+64698C>T | |
| NM_001377323.1:c.309+64698C>T | NP_001364252.1:n.309+64698C>T | |
| NM_001377324.1:c.300+64698C>T | NP_001364253.1:n.300+64698C>T | |
| NM_001377325.1:c.291+64698C>T | NP_001364254.1:n.291+64698C>T | |
| NM_001377326.1:c.249+64698C>T | NP_001364255.1:n.249+64698C>T | |
| NM_001377327.1:c.249+64698C>T | NP_001364256.1:n.249+64698C>T | |
| NM_001377328.1:c.249+64698C>T | NP_001364257.1:n.249+64698C>T | |
| NM_006393.3:c.137C>T MANE Select | NP_006384.1:p.Thr46Met |