Linked Data
ClinVar Variation Id:
2570992
ClinVar RCV Id:
RCV003312393
dbSNP Id:
rs192369207
ExAC:
17:56649275 T / C
gnomAD v2:
17-56649275-T-C
gnomAD v3:
17-58571914-T-C
gnomAD v4:
17-58571914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58571914T>C , CM000679.2:g.58571914T>C | GRCh38 |
| NC_000017.10:g.56649275T>C , CM000679.1:g.56649275T>C | GRCh37 |
| NC_000017.9:g.54004274T>C | NCBI36 |
| NG_047169.1:g.125166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3717+7A>G MANE Select | ENSP00000268910.8:n.3717+7A>G | |
| ENST00000240361.12:c.3855+7A>G | ENSP00000240361.8:n.3855+7A>G | |
| ENST00000349033.9:c.3717+7A>G | ENSP00000268910.8:n.3717+7A>G | |
| ENST00000389934.7:c.3837+7A>G | ENSP00000374584.3:n.3837+7A>G | |
| ENST00000581147.1:c.277+7A>G | ||
| ENST00000582740.1:c.*3555+7A>G | ENSP00000463593.1:n.*3555+7A>G | |
| NM_001201457.1:c.3855+7A>G | NP_001188386.1:n.3855+7A>G | |
| NM_031272.4:c.3717+7A>G | NP_112562.3:n.3717+7A>G | |
| NM_198393.3:c.3837+7A>G | NP_938207.2:n.3837+7A>G | |
| XM_011525028.1:c.3960+7A>G | XP_011523330.1:n.3960+7A>G | |
| XM_011525029.1:c.3960+7A>G | XP_011523331.1:n.3960+7A>G | |
| XM_011525030.1:c.3960+7A>G | XP_011523332.1:n.3960+7A>G | |
| XM_011525031.1:c.3960+7A>G | XP_011523333.1:n.3960+7A>G | |
| XM_011525032.1:c.3723+7A>G | XP_011523334.1:n.3723+7A>G | |
| XM_011525033.1:c.2661+7A>G | XP_011523335.1:n.2661+7A>G | |
| XM_011525029.3:c.3960+7A>G | XP_011523331.1:n.3960+7A>G | |
| XM_017024861.1:c.2661+7A>G | XP_016880350.1:n.2661+7A>G | |
| NM_001201457.2:c.3855+7A>G | NP_001188386.1:n.3855+7A>G | |
| NM_031272.5:c.3717+7A>G MANE Select | NP_112562.3:n.3717+7A>G | |
| NM_198393.4:c.3837+7A>G | NP_938207.2:n.3837+7A>G |