Linked Data
ClinVar Variation Id:
223492
ClinVar RCV Id:
RCV000208906
dbSNP Id:
rs11717703
gnomAD v2:
3-142171595-G-A
gnomAD v3:
3-142452753-G-A
gnomAD v4:
3-142452753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142452753G>A , CM000665.2:g.142452753G>A | GRCh38 |
| NC_000003.11:g.142171595G>A , CM000665.1:g.142171595G>A | GRCh37 |
| NC_000003.10:g.143654285G>A | NCBI36 |
| NG_008951.1:g.131074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.7761+375C>T MANE Select | ENSP00000343741.4:n.7761+375C>T | |
| ENST00000513291.2:n.3320C>T | ||
| ENST00000653893.1:n.2619+375C>T | ||
| ENST00000654170.1:n.2604+375C>T | ||
| ENST00000656114.1:n.2847+375C>T | ||
| ENST00000656590.1:c.6551+375C>T | ||
| ENST00000658083.1:n.2804+375C>T | ||
| ENST00000661310.1:c.7569+375C>T | ENSP00000499589.1:n.7569+375C>T | |
| ENST00000665483.1:n.5301+375C>T | ||
| ENST00000666447.1:n.4264+375C>T | ||
| ENST00000666943.1:n.4493+375C>T | ||
| ENST00000350721.8:c.7761+375C>T | ENSP00000343741.4:n.7761+375C>T | |
| ENST00000504521.5:c.213+375C>T | ENSP00000422553.1:n.213+375C>T | |
| ENST00000511016.1:n.681C>T | ||
| ENST00000513291.1:c.1675C>T | ||
| ENST00000515810.1:c.50+364C>T | ENSP00000421870.1:n.50+364C>T | |
| NM_001184.3:c.7761+375C>T | NP_001175.2:n.7761+375C>T | |
| XM_011512924.1:c.7767+375C>T | XP_011511226.1:n.7767+375C>T | |
| XM_011512925.1:c.7575+375C>T | XP_011511227.1:n.7575+375C>T | |
| XR_924147.1:n.8231C>T | ||
| XR_924148.1:n.7856+375C>T | ||
| NM_001354579.1:c.7569+375C>T | NP_001341508.1:n.7569+375C>T | |
| XR_001740179.2:n.7850+375C>T | ||
| XR_924148.2:n.7856+375C>T | ||
| NM_001184.4:c.7761+375C>T MANE Select | NP_001175.2:n.7761+375C>T | |
| NM_001354579.2:c.7569+375C>T | NP_001341508.1:n.7569+375C>T |