Linked Data
dbSNP Id:
rs373554342
ExAC:
17:61574352 G / A
gnomAD v2:
17-61574352-G-A
gnomAD v3:
17-63496991-G-A
gnomAD v4:
17-63496991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496991G>A , CM000679.2:g.63496991G>A | GRCh38 |
| NC_000017.10:g.61574352G>A , CM000679.1:g.61574352G>A | GRCh37 |
| NC_000017.9:g.58928084G>A | NCBI36 |
| NG_011648.1:g.24919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3691+6G>A MANE Select | ENSP00000290866.4:n.3691+6G>A | |
| ENST00000290863.10:c.1969+6G>A | ENSP00000290863.6:n.1969+6G>A | |
| ENST00000290866.9:c.3691+6G>A | ENSP00000290866.4:n.3691+6G>A | |
| ENST00000413513.7:c.1846+6G>A | ENSP00000392247.3:n.1846+6G>A | |
| ENST00000428043.5:c.3697G>A | ENSP00000397593.2:p.Ala1233Thr | |
| ENST00000577418.5:n.701+6G>A | ||
| ENST00000577647.2:c.1969+6G>A | ENSP00000464149.1:n.1969+6G>A | |
| ENST00000578839.5:c.*1446+6G>A | ENSP00000462110.2:n.*1446+6G>A | |
| ENST00000579314.5:c.*1420+6G>A | ENSP00000462599.1:n.*1420+6G>A | |
| ENST00000579409.1:c.384G>A | ||
| NM_000789.3:c.3691+6G>A | NP_000780.1:n.3691+6G>A | |
| NM_001178057.1:c.1846+6G>A | NP_001171528.1:n.1846+6G>A | |
| NM_152830.2:c.1969+6G>A | NP_690043.1:n.1969+6G>A | |
| XM_005257110.1:c.3142+6G>A | XP_005257167.1:n.3142+6G>A | |
| XM_006721737.2:c.2029+6G>A | XP_006721800.2:n.2029+6G>A | |
| XM_006721737.3:c.2029+6G>A | XP_006721800.2:n.2029+6G>A | |
| NM_000789.4:c.3691+6G>A MANE Select | NP_000780.1:n.3691+6G>A | |
| NM_001178057.2:c.1846+6G>A | NP_001171528.1:n.1846+6G>A | |
| NM_152830.3:c.1969+6G>A | NP_690043.1:n.1969+6G>A | |
| NM_001382700.1:c.3124+6G>A | NP_001369629.1:n.3124+6G>A | |
| NM_001382701.1:c.2839+6G>A | NP_001369630.1:n.2839+6G>A | |
| NM_001382702.1:c.1306+6G>A | NP_001369631.1:n.1306+6G>A | |
| NR_168483.1:n.2069+6G>A |