Linked Data
ClinVar Variation Id:
2187024
ClinVar RCV Id:
RCV002611286
dbSNP Id:
rs1416711428
gnomAD v2:
2-44126381-C-T
gnomAD v4:
2-43899242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899242C>T , CM000664.2:g.43899242C>T | GRCh38 |
| NC_000002.11:g.44126381C>T , CM000664.1:g.44126381C>T | GRCh37 |
| NC_000002.10:g.43979885C>T | NCBI36 |
| NG_008247.1:g.101764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.233G>A | ||
| ENST00000472420.6:n.881G>A | ||
| ENST00000483489.2:n.233G>A | ||
| ENST00000681993.1:n.1354G>A | ||
| ENST00000682303.1:c.*3588G>A | ENSP00000508325.1:n.*3588G>A | |
| ENST00000682308.1:c.3802G>A | ENSP00000507056.1:p.Asp1268Asn | |
| ENST00000682434.1:n.1353G>A | ||
| ENST00000682480.1:c.3820G>A | ENSP00000508344.1:p.Asp1274Asn | |
| ENST00000682546.1:c.3799G>A | ENSP00000508188.1:p.Asp1267Asn | |
| ENST00000682585.1:c.3802G>A | ENSP00000506885.1:p.Asp1268Asn | |
| ENST00000682595.1:n.4386G>A | ||
| ENST00000682607.1:c.2220G>A | ||
| ENST00000682612.1:c.654G>A | ||
| ENST00000682779.1:c.3793G>A | ENSP00000507947.1:p.Asp1265Asn | |
| ENST00000682885.1:c.3757G>A | ENSP00000508036.1:p.Asp1253Asn | |
| ENST00000682933.1:n.3876G>A | ||
| ENST00000683002.1:c.654G>A | ||
| ENST00000683072.1:n.4386G>A | ||
| ENST00000683080.1:n.1421G>A | ||
| ENST00000683125.1:c.3910G>A | ENSP00000507939.1:p.Asp1304Asn | |
| ENST00000683213.1:c.3805G>A | ENSP00000507751.1:p.Asp1269Asn | |
| ENST00000683220.1:c.3832G>A | ENSP00000507151.1:p.Asp1278Asn | |
| ENST00000683329.1:n.4605G>A | ||
| ENST00000683346.1:c.*3677G>A | ENSP00000507458.1:n.*3677G>A | |
| ENST00000683409.1:n.2409G>A | ||
| ENST00000683459.1:n.4389G>A | ||
| ENST00000683528.1:c.730G>A | ||
| ENST00000683590.1:c.3550G>A | ENSP00000506820.1:p.Asp1184Asn | |
| ENST00000683623.1:c.3709G>A | ENSP00000507702.1:p.Asp1237Asn | |
| ENST00000683645.1:n.4353G>A | ||
| ENST00000683796.1:c.*3674G>A | ENSP00000508221.1:n.*3674G>A | |
| ENST00000683802.1:n.6727G>A | ||
| ENST00000683833.1:c.3793G>A | ENSP00000506852.1:p.Asp1265Asn | |
| ENST00000683994.1:c.3802G>A | ENSP00000507181.1:p.Asp1268Asn | |
| ENST00000684290.1:c.*1338G>A | ENSP00000507243.1:n.*1338G>A | |
| ENST00000684306.1:c.*3715G>A | ENSP00000508384.1:n.*3715G>A | |
| ENST00000684341.1:n.3822G>A | ||
| ENST00000684383.1:c.*3440G>A | ENSP00000506863.1:n.*3440G>A | |
| ENST00000684418.1:n.4983G>A | ||
| ENST00000684433.1:n.186G>A | ||
| ENST00000684454.1:n.3152G>A | ||
| ENST00000684619.1:c.*3674G>A | ENSP00000508088.1:n.*3674G>A | |
| ENST00000684743.1:n.6547G>A | ||
| ENST00000260665.12:c.3802G>A MANE Select | ENSP00000260665.7:p.Asp1268Asn | |
| ENST00000260665.11:c.3802G>A | ENSP00000260665.7:p.Asp1268Asn | |
| ENST00000419884.5:c.43G>A | ENSP00000414207.1:p.Asp15Asn | |
| ENST00000463456.5:n.2845G>A | ||
| ENST00000472420.5:n.199G>A | ||
| ENST00000483489.1:n.276G>A | ||
| NM_133259.3:c.3802G>A | NP_573566.2:p.Asp1268Asn | |
| XM_006711915.2:c.3724G>A | XP_006711978.1:p.Asp1242Asn | |
| XM_011532473.1:c.3802G>A | XP_011530775.1:p.Asp1268Asn | |
| XM_011532474.1:c.3802G>A | XP_011530776.1:p.Asp1268Asn | |
| XM_017003117.1:c.3724G>A | XP_016858606.1:p.Asp1242Asn | |
| XR_002958896.1:n.3844G>A | ||
| NM_133259.4:c.3802G>A MANE Select | NP_573566.2:p.Asp1268Asn |