Linked Data
ClinVar Variation Id:
2467766
ClinVar RCV Id:
RCV004261055
dbSNP Id:
rs768374748
ExAC:
12:101017750 A / C
gnomAD v2:
12-101017750-A-C
gnomAD v3:
12-100623972-A-C
gnomAD v4:
12-100623972-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100623972A>C , CM000674.2:g.100623972A>C | GRCh38 |
| NC_000012.11:g.101017750A>C , CM000674.1:g.101017750A>C | GRCh37 |
| NC_000012.10:g.99541881A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547754.6:c.1167A>C MANE Select | ENSP00000448955.1:p.Lys389Asn | |
| ENST00000266754.9:c.1167A>C | ENSP00000266754.5:p.Lys389Asn | |
| ENST00000537247.5:c.855A>C | ENSP00000442406.1:p.Lys285Asn | |
| ENST00000539410.2:c.1167A>C | ENSP00000439672.1:p.Lys389Asn | |
| ENST00000547754.5:c.1167A>C | ENSP00000448955.1:p.Lys389Asn | |
| ENST00000552854.1:c.258A>C | ENSP00000450107.1:p.Lys86Asn | |
| NM_001303130.1:c.1167A>C | NP_001290059.1:p.Lys389Asn | |
| NM_001303131.1:c.855A>C | NP_001290060.1:p.Lys285Asn | |
| NM_174942.2:c.1167A>C | NP_777602.1:p.Lys389Asn | |
| XM_005268804.2:c.1167A>C | XP_005268861.1:p.Lys389Asn | |
| XM_011538219.1:c.1167A>C | XP_011536521.1:p.Lys389Asn | |
| XM_011538220.1:c.1167A>C | XP_011536522.1:p.Lys389Asn | |
| XM_011538221.1:c.1167A>C | XP_011536523.1:p.Lys389Asn | |
| XM_011538222.1:c.411A>C | XP_011536524.1:p.Lys137Asn | |
| NM_001363672.1:c.1167A>C | NP_001350601.1:p.Lys389Asn | |
| XM_005268804.3:c.1167A>C | XP_005268861.1:p.Lys389Asn | |
| XM_011538220.2:c.1167A>C | XP_011536522.1:p.Lys389Asn | |
| XM_011538221.2:c.1167A>C | XP_011536523.1:p.Lys389Asn | |
| XM_017019206.1:c.1167A>C | XP_016874695.1:p.Lys389Asn | |
| NM_174942.3:c.1167A>C MANE Select | NP_777602.1:p.Lys389Asn | |
| NM_001303130.2:c.1167A>C | NP_001290059.1:p.Lys389Asn | |
| NM_001363672.2:c.1167A>C | NP_001350601.1:p.Lys389Asn | |
| NM_001303131.2:c.855A>C | NP_001290060.1:p.Lys285Asn |