Linked Data
dbSNP Id:
rs2069271749
gnomAD v4:
17-2676603-C-A
MyVariant Identifiers:
chr17:g.2579897C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2676603C>A , CM000679.2:g.2676603C>A | GRCh38 |
| NC_000017.10:g.2579897C>A , CM000679.1:g.2579897C>A | GRCh37 |
| NC_000017.9:g.2526647C>A | NCBI36 |
| NG_009799.1:g.87975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.999C>A MANE Select | ENSP00000380378.4:p.Thr333= | |
| ENST00000571495.2:n.2084C>A | ||
| ENST00000674608.1:c.1053C>A | ENSP00000501976.1:p.Thr351= | |
| ENST00000674717.1:c.804C>A | ENSP00000501931.1:p.Thr268= | |
| ENST00000675084.1:n.253C>A | ||
| ENST00000675202.1:c.999C>A | ENSP00000502843.1:p.Thr333= | |
| ENST00000675331.1:c.999C>A | ENSP00000502031.1:p.Thr333= | |
| ENST00000675385.1:n.613C>A | ||
| ENST00000675390.1:c.999C>A | ENSP00000501969.1:p.Thr333= | |
| ENST00000675574.1:n.4054C>A | ||
| ENST00000675621.1:c.999C>A | ENSP00000502117.1:p.Thr333= | |
| ENST00000675764.1:c.*953C>A | ENSP00000502242.1:n.*953C>A | |
| ENST00000676077.1:c.*317C>A | ENSP00000502507.1:n.*317C>A | |
| ENST00000676098.1:c.999C>A | ENSP00000502735.1:p.Thr333= | |
| ENST00000676188.1:c.999C>A | ENSP00000502577.1:p.Thr333= | |
| ENST00000676353.1:c.804C>A | ENSP00000502737.1:p.Thr268= | |
| ENST00000397193.7:n.807C>A | ||
| ENST00000397195.9:c.999C>A | ENSP00000380378.4:p.Thr333= | |
| ENST00000571495.1:n.723C>A | ||
| ENST00000572915.6:n.676+2507C>A | ||
| ENST00000574468.1:c.396+2315C>A | ENSP00000460591.1:n.396+2315C>A | |
| ENST00000574816.5:n.320C>A | ||
| NM_000430.3:c.999C>A | NP_000421.1:p.Thr333= | |
| XM_011523901.1:c.1053C>A | XP_011522203.1:p.Thr351= | |
| XM_011523902.1:c.1053C>A | XP_011522204.1:p.Thr351= | |
| XM_011523903.1:c.1053C>A | XP_011522205.1:p.Thr351= | |
| XM_011523901.2:c.1053C>A | XP_011522203.1:p.Thr351= | |
| XM_011523902.3:c.1053C>A | XP_011522204.1:p.Thr351= | |
| XM_011523903.2:c.1053C>A | XP_011522205.1:p.Thr351= | |
| XM_017024701.1:c.999C>A | XP_016880190.1:p.Thr333= | |
| XM_017024702.2:c.804C>A | XP_016880191.1:p.Thr268= | |
| NM_000430.4:c.999C>A MANE Select | NP_000421.1:p.Thr333= |