Linked Data
ClinVar Variation Id:
180672
ClinVar RCV Id:
RCV000157632
dbSNP Id:
rs886037740
gnomAD v4:
17-75517657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75517657T>C , CM000679.2:g.75517657T>C | GRCh38 |
| NC_000017.10:g.73513738T>C , CM000679.1:g.73513738T>C | GRCh37 |
| NC_000017.9:g.71025333T>C | NCBI36 |
| NG_013041.1:g.6130T>C | |
| NG_033152.1:g.2927A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.468+2T>C MANE Select | ENSP00000327487.6:n.468+2T>C | |
| ENST00000434205.8:c.165+2T>C | ENSP00000406559.4:n.165+2T>C | |
| ENST00000545228.3:c.468+2T>C | ENSP00000438169.3:n.468+2T>C | |
| ENST00000579449.2:n.267+2T>C | ||
| ENST00000580013.6:n.477+2T>C | ||
| ENST00000583818.2:c.468+2T>C | ENSP00000461928.2:n.468+2T>C | |
| ENST00000679370.1:n.855+2T>C | ||
| ENST00000679429.1:c.468+2T>C | ENSP00000505403.1:n.468+2T>C | |
| ENST00000679443.1:n.343+2T>C | ||
| ENST00000679782.1:c.468+2T>C | ENSP00000505995.1:n.468+2T>C | |
| ENST00000679919.1:n.343+2T>C | ||
| ENST00000679928.1:c.468+2T>C | ENSP00000506071.1:n.468+2T>C | |
| ENST00000680528.1:n.493+2T>C | ||
| ENST00000680999.1:c.468+2T>C | ENSP00000504984.1:n.468+2T>C | |
| ENST00000681282.1:c.468+2T>C | ENSP00000506339.1:n.468+2T>C | |
| ENST00000333213.10:c.468+2T>C | ENSP00000327487.6:n.468+2T>C | |
| ENST00000434205.7:c.165+2T>C | ENSP00000406559.3:n.165+2T>C | |
| ENST00000578415.1:c.428+2T>C | ||
| ENST00000580013.5:n.493+2T>C | ||
| ENST00000583173.5:c.303+2T>C | ENSP00000463619.1:n.303+2T>C | |
| ENST00000583818.1:c.363+2T>C | ENSP00000461928.1:n.363+2T>C | |
| NM_207346.2:c.468+2T>C | NP_997229.2:n.468+2T>C | |
| XM_005257229.2:c.468+2T>C | XP_005257286.1:n.468+2T>C | |
| XM_006721821.2:c.165+2T>C | XP_006721884.1:n.165+2T>C | |
| XM_011524616.1:c.468+2T>C | XP_011522918.1:n.468+2T>C | |
| XM_011524617.1:c.468+2T>C | XP_011522919.1:n.468+2T>C | |
| XM_011524618.1:c.468+2T>C | XP_011522920.1:n.468+2T>C | |
| XR_243646.2:n.498+2T>C | ||
| XM_005257229.4:c.468+2T>C | XP_005257286.1:n.468+2T>C | |
| XR_243646.4:n.504+2T>C | ||
| NM_207346.3:c.468+2T>C MANE Select | NP_997229.2:n.468+2T>C |