Linked Data
ClinVar Variation Id:
201909
dbSNP Id:
rs371551337
ExAC:
10:21106576 G / T
gnomAD v2:
10-21106576-G-T
gnomAD v3:
10-20817647-G-T
gnomAD v4:
10-20817647-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20817647G>T , CM000672.2:g.20817647G>T | GRCh38 |
| NC_000010.10:g.21106576G>T , CM000672.1:g.21106576G>T | GRCh37 |
| NC_000010.9:g.21146582G>T | NCBI36 |
| NG_017092.1:g.361541C>A , LRG_411:g.361541C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.2101C>A MANE Select | ENSP00000366326.4:p.Pro701Thr | |
| ENST00000675114.1:n.566-4707C>A | ||
| ENST00000675700.1:n.381-4707C>A | ||
| ENST00000675702.1:n.637-4707C>A | ||
| ENST00000676125.1:c.99C>A | ||
| ENST00000377122.8:c.2101C>A | ENSP00000366326.4:p.Pro701Thr | |
| ENST00000417816.2:c.358-4707C>A | ENSP00000393896.2:n.358-4707C>A | |
| ENST00000460652.1:c.257C>A | ||
| ENST00000473616.5:c.4C>A | ENSP00000489562.1:p.Pro2Thr | |
| ENST00000481592.5:c.234C>A | ENSP00000489545.1:n.234C>A | |
| ENST00000493005.5:n.1421C>A | ||
| NM_001173484.1:c.358-4707C>A | NP_001166955.1:n.358-4707C>A | |
| NM_006393.2:c.2101C>A , LRG_411t2:c.2101C>A | NP_006384.1:p.Pro701Thr | |
| NM_213569.2:c.358-4707C>A , LRG_411t1:c.358-4707C>A | NP_998734.1:n.358-4707C>A | |
| XM_005252342.3:c.1999C>A | XP_005252399.1:p.Pro667Thr | |
| XM_005252343.3:c.2101C>A | XP_005252400.1:p.Pro701Thr | |
| XM_005252344.3:c.2101C>A | XP_005252401.1:p.Pro701Thr | |
| XM_011519290.1:c.2053C>A | XP_011517592.1:p.Pro685Thr | |
| XM_011519291.1:c.2053C>A | XP_011517593.1:p.Pro685Thr | |
| XR_242691.3:n.2933C>A | ||
| XM_005252342.5:c.1999C>A | XP_005252399.1:p.Pro667Thr | |
| XM_005252343.5:c.2101C>A | XP_005252400.1:p.Pro701Thr | |
| XM_005252344.5:c.2101C>A | XP_005252401.1:p.Pro701Thr | |
| XM_011519291.2:c.2053C>A | XP_011517593.1:p.Pro685Thr | |
| XM_017015468.1:c.2053C>A | XP_016870957.1:p.Pro685Thr | |
| XR_001746995.2:n.3697C>A | ||
| XR_001746996.1:n.3136C>A | ||
| XR_242691.5:n.4417C>A | ||
| NM_001173484.2:c.358-4707C>A | NP_001166955.1:n.358-4707C>A | |
| NM_001377322.1:c.358-4707C>A | NP_001364251.1:n.358-4707C>A | |
| NM_001377323.1:c.310-4707C>A | NP_001364252.1:n.310-4707C>A | |
| NM_001377324.1:c.301-4707C>A | NP_001364253.1:n.301-4707C>A | |
| NM_001377325.1:c.292-4707C>A | NP_001364254.1:n.292-4707C>A | |
| NM_001377326.1:c.250-4707C>A | NP_001364255.1:n.250-4707C>A | |
| NM_001377327.1:c.250-4707C>A | NP_001364256.1:n.250-4707C>A | |
| NM_001377328.1:c.250-4707C>A | NP_001364257.1:n.250-4707C>A | |
| NM_006393.3:c.2101C>A MANE Select | NP_006384.1:p.Pro701Thr |