Linked Data
ClinVar Variation Id:
3041503
ClinVar RCV Id:
RCV003917319
dbSNP Id:
rs777424229
ExAC:
17:1374451 C / T
gnomAD v2:
17-1374451-C-T
gnomAD v4:
17-1471157-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1471157C>T , CM000679.2:g.1471157C>T | GRCh38 |
| NC_000017.10:g.1374451C>T , CM000679.1:g.1374451C>T | GRCh37 |
| NC_000017.9:g.1321201C>T | NCBI36 |
| NG_047063.1:g.26551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361007.7:c.2031-10G>A | ENSP00000354283.2:n.2031-10G>A | |
| ENST00000570984.7:c.2031-10G>A | ENSP00000459271.3:n.2031-10G>A | |
| ENST00000646049.1:c.2031-10G>A | ENSP00000493973.1:n.2031-10G>A | |
| ENST00000648446.1:c.2079-10G>A | ENSP00000496799.1:n.2079-10G>A | |
| ENST00000648651.1:c.2136-10G>A MANE Select | ENSP00000496954.1:n.2136-10G>A | |
| ENST00000359786.9:c.2136-10G>A | ENSP00000352834.5:n.2136-10G>A | |
| ENST00000361007.6:c.2031-10G>A | ENSP00000354283.2:n.2031-10G>A | |
| ENST00000438665.6:c.2079-10G>A | ENSP00000412197.2:n.2079-10G>A | |
| ENST00000545534.6:c.2064-10G>A | ENSP00000437685.2:n.2064-10G>A | |
| ENST00000571615.1:n.540-10G>A | ||
| ENST00000575158.5:c.2031-10G>A | ENSP00000459174.1:n.2031-10G>A | |
| ENST00000575864.5:n.466-10G>A | ||
| NM_001080779.1:c.2136-10G>A | NP_001074248.1:n.2136-10G>A | |
| NM_001080950.1:c.2079-10G>A | NP_001074419.1:n.2079-10G>A | |
| NM_033375.4:c.2031-10G>A | NP_203693.3:n.2031-10G>A | |
| NM_001363855.1:c.2064-10G>A | NP_001350784.1:n.2064-10G>A | |
| XM_024450768.1:c.2031-10G>A | XP_024306536.1:n.2031-10G>A | |
| XM_024450769.1:c.2031-10G>A | XP_024306537.1:n.2031-10G>A | |
| NM_001080779.2:c.2136-10G>A MANE Select | NP_001074248.1:n.2136-10G>A | |
| NM_001080950.2:c.2079-10G>A | NP_001074419.1:n.2079-10G>A | |
| NM_033375.5:c.2031-10G>A | NP_203693.3:n.2031-10G>A |