Linked Data
ClinVar Variation Id:
2120650
ClinVar RCV Id:
RCV003059488
dbSNP Id:
rs1473159644
gnomAD v2:
2-198354904-A-T
gnomAD v4:
2-197490180-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197490180A>T , CM000664.2:g.197490180A>T | GRCh38 |
| NC_000002.11:g.198354904A>T , CM000664.1:g.198354904A>T | GRCh37 |
| NC_000002.10:g.198063149A>T | NCBI36 |
| NG_008915.1:g.15095T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.969+17T>A MANE Select | ENSP00000373620.3:n.969+17T>A | |
| ENST00000418022.2:c.969+17T>A | ENSP00000412227.2:n.969+17T>A | |
| ENST00000426480.2:c.969+17T>A | ENSP00000414446.2:n.969+17T>A | |
| ENST00000428204.6:c.969+17T>A | ENSP00000396460.2:n.969+17T>A | |
| ENST00000439605.2:c.969+17T>A | ENSP00000402478.2:n.969+17T>A | |
| ENST00000440114.2:c.*775+17T>A | ENSP00000390404.1:n.*775+17T>A | |
| ENST00000452200.6:c.969+17T>A | ENSP00000412717.2:n.969+17T>A | |
| ENST00000461097.2:n.3717+17T>A | ||
| ENST00000476746.6:n.2017+17T>A | ||
| ENST00000676933.1:c.873+17T>A | ENSP00000503144.1:n.873+17T>A | |
| ENST00000677403.1:c.969+17T>A | ENSP00000504667.1:n.969+17T>A | |
| ENST00000677454.1:c.1107+17T>A | ENSP00000503295.1:n.1107+17T>A | |
| ENST00000677792.1:c.870-933T>A | ENSP00000504645.1:n.870-933T>A | |
| ENST00000677913.1:c.969+17T>A | ENSP00000503139.1:n.969+17T>A | |
| ENST00000678170.1:c.696+17T>A | ENSP00000503910.1:n.696+17T>A | |
| ENST00000678545.1:c.*279+17T>A | ENSP00000502920.1:n.*279+17T>A | |
| ENST00000678621.1:c.969+17T>A | ENSP00000504328.1:n.969+17T>A | |
| ENST00000678761.1:c.969+17T>A | ENSP00000503894.1:n.969+17T>A | |
| ENST00000678969.1:n.1627T>A | ||
| ENST00000679291.1:c.870-933T>A | ENSP00000504417.1:n.870-933T>A | |
| ENST00000345042.6:c.969+17T>A | ENSP00000340019.2:n.969+17T>A | |
| ENST00000388968.7:c.969+17T>A | ENSP00000373620.3:n.969+17T>A | |
| ENST00000491249.1:n.376+17T>A | ||
| NM_002156.4:c.969+17T>A | NP_002147.2:n.969+17T>A | |
| NM_199440.1:c.969+17T>A | NP_955472.1:n.969+17T>A | |
| XM_005246518.2:c.969+17T>A | XP_005246575.1:n.969+17T>A | |
| NM_002156.5:c.969+17T>A MANE Select | NP_002147.2:n.969+17T>A | |
| NM_199440.2:c.969+17T>A | NP_955472.1:n.969+17T>A |