Linked Data
ClinVar Variation Id:
224809
ClinVar RCV Id:
RCV000210382
dbSNP Id:
rs149908903
gnomAD v2:
1-18023681-G-A
gnomAD v4:
1-17697186-G-A
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17697186G>A , CM000663.2:g.17697186G>A | GRCh38 |
| NC_000001.10:g.18023681G>A , CM000663.1:g.18023681G>A | GRCh37 |
| NC_000001.9:g.17896268G>A | NCBI36 |
| NG_050860.1:g.181990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361221.8:c.3646G>A MANE Select | ENSP00000355060.3:p.Asp1216Asn | |
| ENST00000167825.5:c.2336G>A | ENSP00000167825.5:n.2336G>A | |
| ENST00000361221.7:c.3646G>A | ENSP00000355060.3:p.Asp1216Asn | |
| ENST00000375408.7:c.2965G>A | ENSP00000364557.3:p.Asp989Asn | |
| ENST00000375415.5:c.3529G>A | ENSP00000364564.1:p.Asp1177Asn | |
| ENST00000469726.5:n.3911G>A | ||
| ENST00000495593.1:n.1573G>A | ||
| NM_001011722.2:c.3529G>A | NP_001011722.2:p.Asp1177Asn | |
| NM_018125.3:c.3646G>A | NP_060595.3:p.Asp1216Asn | |
| XM_005245923.2:c.3541G>A | XP_005245980.2:p.Asp1181Asn | |
| XM_005245925.2:c.3529G>A | XP_005245982.2:p.Asp1177Asn | |
| XM_005245927.2:c.2980G>A | XP_005245984.2:p.Asp994Asn | |
| XM_005245929.2:c.2965G>A | XP_005245986.2:p.Asp989Asn | |
| XM_006710728.1:c.3541G>A | XP_006710791.1:p.Asp1181Asn | |
| XM_006710729.1:c.3538G>A | XP_006710792.1:p.Asp1180Asn | |
| XM_006710731.1:c.3538G>A | XP_006710794.1:p.Asp1180Asn | |
| XM_011541691.1:c.3532G>A | XP_011539993.1:p.Asp1178Asn | |
| XM_011541692.1:c.3526G>A | XP_011539994.1:p.Asp1176Asn | |
| XM_011541693.1:c.3517G>A | XP_011539995.1:p.Asp1173Asn | |
| XM_011541694.1:c.3514G>A | XP_011539996.1:p.Asp1172Asn | |
| NM_001319837.1:c.3514G>A | NP_001306766.1:p.Asp1172Asn | |
| NM_001319838.1:c.2755G>A | NP_001306767.1:p.Asp919Asn | |
| NM_001328124.1:c.2980G>A | NP_001315053.1:p.Asp994Asn | |
| NR_137287.1:n.4552G>A | ||
| NR_137288.1:n.4432G>A | ||
| XM_005245929.3:c.2965G>A | XP_005245986.2:p.Asp989Asn | |
| XM_011541691.2:c.3532G>A | XP_011539993.1:p.Asp1178Asn | |
| XM_011541692.2:c.3526G>A | XP_011539994.1:p.Asp1176Asn | |
| XM_011541693.2:c.3517G>A | XP_011539995.1:p.Asp1173Asn | |
| XM_017001617.1:c.3514G>A | XP_016857106.1:p.Asp1172Asn | |
| XM_017001618.1:c.2935G>A | XP_016857107.1:p.Asp979Asn | |
| XM_017001621.1:c.3646G>A | XP_016857110.1:p.Asp1216Asn | |
| XM_017001622.1:c.3631G>A | XP_016857111.1:p.Asp1211Asn | |
| XM_024448059.1:c.3541G>A | XP_024303827.1:p.Asp1181Asn | |
| XM_024448061.1:c.3541G>A | XP_024303829.1:p.Asp1181Asn | |
| XM_024448062.1:c.3541G>A | XP_024303830.1:p.Asp1181Asn | |
| XR_001737277.1:n.3548G>A | ||
| XR_002956988.1:n.4292G>A | ||
| XR_002956989.1:n.4277G>A | ||
| NM_018125.4:c.3646G>A MANE Select | NP_060595.3:p.Asp1216Asn | |
| NR_137287.2:n.4689G>A | ||
| NR_137288.2:n.4569G>A |