Linked Data
ClinVar Variation Id:
383171
ClinVar RCV Id:
RCV000434115
dbSNP Id:
rs199731535
gnomAD v4:
3-142549478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142549478C>T , CM000665.2:g.142549478C>T | GRCh38 |
| NC_000003.11:g.142268320C>T , CM000665.1:g.142268320C>T | GRCh37 |
| NC_000003.10:g.143751010C>T | NCBI36 |
| NG_008951.1:g.34349G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.3171+1G>A MANE Select | ENSP00000343741.4:n.3171+1G>A | |
| ENST00000515149.3:c.*1945+1G>A | ENSP00000425897.3:n.*1945+1G>A | |
| ENST00000653868.1:n.3200+1G>A | ||
| ENST00000656582.1:n.430+1G>A | ||
| ENST00000656590.1:c.1961+1G>A | ||
| ENST00000661310.1:c.2979+1G>A | ENSP00000499589.1:n.2979+1G>A | |
| ENST00000350721.8:c.3171+1G>A | ENSP00000343741.4:n.3171+1G>A | |
| NM_001184.3:c.3171+1G>A | NP_001175.2:n.3171+1G>A | |
| XM_011512924.1:c.3171+1G>A | XP_011511226.1:n.3171+1G>A | |
| XM_011512925.1:c.2979+1G>A | XP_011511227.1:n.2979+1G>A | |
| XM_011512926.1:c.3171+1G>A | XP_011511228.1:n.3171+1G>A | |
| XM_011512927.1:c.3171+1G>A | XP_011511229.1:n.3171+1G>A | |
| XR_924147.1:n.3260+1G>A | ||
| XR_924148.1:n.3260+1G>A | ||
| XR_924149.1:n.3260+1G>A | ||
| NM_001354579.1:c.2979+1G>A | NP_001341508.1:n.2979+1G>A | |
| XR_001740179.2:n.3260+1G>A | ||
| XR_001740180.2:n.3260+1G>A | ||
| XR_001740181.2:n.3260+1G>A | ||
| XR_001740182.1:n.3260+1G>A | ||
| XR_002959543.1:n.3260+1G>A | ||
| XR_924148.2:n.3260+1G>A | ||
| NM_001184.4:c.3171+1G>A MANE Select | NP_001175.2:n.3171+1G>A | |
| NM_001354579.2:c.2979+1G>A | NP_001341508.1:n.2979+1G>A |