Linked Data
dbSNP Id:
rs753824488
ExAC:
17:2575917 A / C
gnomAD v2:
17-2575917-A-C
gnomAD v3:
17-2672623-A-C
gnomAD v4:
17-2672623-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2672623A>C , CM000679.2:g.2672623A>C | GRCh38 |
| NC_000017.10:g.2575917A>C , CM000679.1:g.2575917A>C | GRCh37 |
| NC_000017.9:g.2522667A>C | NCBI36 |
| NG_009799.1:g.83995A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.569-32A>C MANE Select | ENSP00000380378.4:n.569-32A>C | |
| ENST00000571495.2:n.320A>C | ||
| ENST00000674608.1:c.623-32A>C | ENSP00000501976.1:n.623-32A>C | |
| ENST00000674717.1:c.374-32A>C | ENSP00000501931.1:n.374-32A>C | |
| ENST00000675202.1:c.569-32A>C | ENSP00000502843.1:n.569-32A>C | |
| ENST00000675331.1:c.569-32A>C | ENSP00000502031.1:n.569-32A>C | |
| ENST00000675390.1:c.569-32A>C | ENSP00000501969.1:n.569-32A>C | |
| ENST00000675574.1:n.307A>C | ||
| ENST00000675621.1:c.569-32A>C | ENSP00000502117.1:n.569-32A>C | |
| ENST00000675764.1:c.*523-32A>C | ENSP00000502242.1:n.*523-32A>C | |
| ENST00000676077.1:c.374-1437A>C | ENSP00000502507.1:n.374-1437A>C | |
| ENST00000676098.1:c.569-32A>C | ENSP00000502735.1:n.569-32A>C | |
| ENST00000676188.1:c.569-32A>C | ENSP00000502577.1:n.569-32A>C | |
| ENST00000676353.1:c.374-32A>C | ENSP00000502737.1:n.374-32A>C | |
| ENST00000397193.7:n.377-32A>C | ||
| ENST00000397195.9:c.569-32A>C | ENSP00000380378.4:n.569-32A>C | |
| ENST00000572915.6:n.537-32A>C | ||
| ENST00000574468.1:c.65-32A>C | ENSP00000460591.1:n.65-32A>C | |
| ENST00000574816.5:n.31-3691A>C | ||
| NM_000430.3:c.569-32A>C | NP_000421.1:n.569-32A>C | |
| XM_011523901.1:c.623-32A>C | XP_011522203.1:n.623-32A>C | |
| XM_011523902.1:c.623-32A>C | XP_011522204.1:n.623-32A>C | |
| XM_011523903.1:c.623-32A>C | XP_011522205.1:n.623-32A>C | |
| XM_011523904.1:c.623-1437A>C | XP_011522206.1:n.623-1437A>C | |
| XM_011523901.2:c.623-32A>C | XP_011522203.1:n.623-32A>C | |
| XM_011523902.3:c.623-32A>C | XP_011522204.1:n.623-32A>C | |
| XM_011523903.2:c.623-32A>C | XP_011522205.1:n.623-32A>C | |
| XM_017024701.1:c.569-32A>C | XP_016880190.1:n.569-32A>C | |
| XM_017024702.2:c.374-32A>C | XP_016880191.1:n.374-32A>C | |
| NM_000430.4:c.569-32A>C MANE Select | NP_000421.1:n.569-32A>C |