Linked Data
ClinVar Variation Id:
1593293
ClinVar RCV Id:
RCV002112769
dbSNP Id:
rs767156404
ExAC:
21:47558575 A / G
gnomAD v2:
21-47558575-A-G
gnomAD v4:
21-46138661-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138661A>G , CM000683.2:g.46138661A>G | GRCh38 |
| NC_000021.8:g.47558575A>G , CM000683.1:g.47558575A>G | GRCh37 |
| NC_000021.7:g.46383003A>G | NCBI36 |
| NG_016191.1:g.21907T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-160-15T>C | ENSP00000507070.1:n.-160-15T>C | |
| ENST00000494498.2:c.39-15T>C | ENSP00000507847.1:n.39-15T>C | |
| ENST00000397746.8:c.1305-15T>C MANE Select | ENSP00000380854.3:n.1305-15T>C | |
| ENST00000291670.9:c.1305-15T>C | ENSP00000291670.5:n.1305-15T>C | |
| ENST00000397743.1:c.1261-15T>C | ENSP00000380851.1:n.1261-15T>C | |
| ENST00000397746.7:c.1305-15T>C | ENSP00000380854.3:n.1305-15T>C | |
| ENST00000397748.5:c.1305-15T>C | ENSP00000380856.1:n.1305-15T>C | |
| ENST00000460011.5:n.634-15T>C | ||
| ENST00000488577.1:n.331-15T>C | ||
| ENST00000494498.1:n.606-15T>C | ||
| ENST00000498355.6:n.1374-15T>C | ||
| NM_006657.2:c.1305-15T>C | NP_006648.1:n.1305-15T>C | |
| NM_206965.1:c.1305-15T>C | NP_996848.1:n.1305-15T>C | |
| XM_006723961.2:c.1554-15T>C | XP_006724024.2:n.1554-15T>C | |
| XM_006723962.2:c.1554-15T>C | XP_006724025.2:n.1554-15T>C | |
| XM_011529434.1:c.1554-15T>C | XP_011527736.1:n.1554-15T>C | |
| XM_011529435.1:c.1425-15T>C | XP_011527737.1:n.1425-15T>C | |
| XM_011529436.1:c.1554-15T>C | XP_011527738.1:n.1554-15T>C | |
| XM_011529437.1:c.1554-15T>C | XP_011527739.1:n.1554-15T>C | |
| XM_011529438.1:c.1425-15T>C | XP_011527740.1:n.1425-15T>C | |
| XM_011529439.1:c.1041-15T>C | XP_011527741.1:n.1041-15T>C | |
| XR_937433.1:n.1737-15T>C | ||
| NM_001320412.1:c.1305-15T>C | NP_001307341.1:n.1305-15T>C | |
| XM_006723961.4:c.1554-15T>C | XP_006724024.2:n.1554-15T>C | |
| XM_006723962.4:c.1554-15T>C | XP_006724025.2:n.1554-15T>C | |
| XM_011529434.3:c.1554-15T>C | XP_011527736.1:n.1554-15T>C | |
| XM_011529435.3:c.1425-15T>C | XP_011527737.1:n.1425-15T>C | |
| XM_011529436.3:c.1554-15T>C | XP_011527738.1:n.1554-15T>C | |
| XM_011529437.3:c.1554-15T>C | XP_011527739.1:n.1554-15T>C | |
| XM_011529439.2:c.1041-15T>C | XP_011527741.1:n.1041-15T>C | |
| XR_937433.3:n.1771-15T>C | ||
| NM_206965.2:c.1305-15T>C MANE Select | NP_996848.1:n.1305-15T>C | |
| NM_001320412.2:c.1305-15T>C | NP_001307341.1:n.1305-15T>C | |
| NM_006657.3:c.1305-15T>C | NP_006648.1:n.1305-15T>C |