Linked Data
ClinVar Variation Id:
196271
ClinVar RCV Id:
RCV000177065
dbSNP Id:
rs767670214
gnomAD v4:
17-2665451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2665451G>A , CM000679.2:g.2665451G>A | GRCh38 |
| NC_000017.10:g.2568745G>A , CM000679.1:g.2568745G>A | GRCh37 |
| NC_000017.9:g.2515495G>A | NCBI36 |
| NG_009799.1:g.76823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.112G>A MANE Select | ENSP00000380378.4:p.Asp38Asn | |
| ENST00000674608.1:c.166G>A | ENSP00000501976.1:p.Asp56Asn | |
| ENST00000674717.1:c.-3-1541G>A | ENSP00000501931.1:n.-3-1541G>A | |
| ENST00000675202.1:c.112G>A | ENSP00000502843.1:p.Asp38Asn | |
| ENST00000675331.1:c.112G>A | ENSP00000502031.1:p.Asp38Asn | |
| ENST00000675390.1:c.112G>A | ENSP00000501969.1:p.Asp38Asn | |
| ENST00000675430.1:n.339G>A | ||
| ENST00000675621.1:c.112G>A | ENSP00000502117.1:p.Asp38Asn | |
| ENST00000675764.1:c.*66G>A | ENSP00000502242.1:n.*66G>A | |
| ENST00000676077.1:c.-84G>A | ENSP00000502507.1:n.-84G>A | |
| ENST00000676098.1:c.112G>A | ENSP00000502735.1:p.Asp38Asn | |
| ENST00000676188.1:c.112G>A | ENSP00000502577.1:p.Asp38Asn | |
| ENST00000676201.1:n.272-565G>A | ||
| ENST00000676353.1:c.-78-565G>A | ENSP00000502737.1:n.-78-565G>A | |
| ENST00000676456.1:n.223-565G>A | ||
| ENST00000397195.9:c.112G>A | ENSP00000380378.4:p.Asp38Asn | |
| ENST00000570400.1:c.33-565G>A | ENSP00000460258.1:n.33-565G>A | |
| ENST00000572915.6:n.273-1541G>A | ||
| ENST00000574816.5:n.31-10863G>A | ||
| ENST00000575477.5:n.620-565G>A | ||
| ENST00000576586.5:c.112G>A | ENSP00000461087.1:p.Asp38Asn | |
| ENST00000609078.1:n.71G>A | ||
| NM_000430.3:c.112G>A | NP_000421.1:p.Asp38Asn | |
| XM_011523901.1:c.166G>A | XP_011522203.1:p.Asp56Asn | |
| XM_011523902.1:c.166G>A | XP_011522204.1:p.Asp56Asn | |
| XM_011523903.1:c.166G>A | XP_011522205.1:p.Asp56Asn | |
| XM_011523904.1:c.166G>A | XP_011522206.1:p.Asp56Asn | |
| XM_011523901.2:c.166G>A | XP_011522203.1:p.Asp56Asn | |
| XM_011523902.3:c.166G>A | XP_011522204.1:p.Asp56Asn | |
| XM_011523903.2:c.166G>A | XP_011522205.1:p.Asp56Asn | |
| XM_017024701.1:c.112G>A | XP_016880190.1:p.Asp38Asn | |
| XM_017024702.2:c.-78-565G>A | XP_016880191.1:n.-78-565G>A | |
| NM_000430.4:c.112G>A MANE Select | NP_000421.1:p.Asp38Asn |