Linked Data
ClinVar Variation Id:
1394691
ClinVar RCV Id:
RCV001898598
dbSNP Id:
rs1244071770
gnomAD v3:
11-18405571-A-C
gnomAD v4:
11-18405571-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18405571A>C , CM000673.2:g.18405571A>C | GRCh38 |
| NC_000011.9:g.18427118A>C , CM000673.1:g.18427118A>C | GRCh37 |
| NC_000011.8:g.18383694A>C | NCBI36 |
| NG_008185.1:g.16137A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.833A>C MANE Select | ENSP00000395337.3:p.Lys278Thr | |
| ENST00000227157.8:c.711-1546A>C | ENSP00000227157.4:n.711-1546A>C | |
| ENST00000375710.7:n.1700A>C | ||
| ENST00000379412.9:c.833A>C | ENSP00000368722.5:p.Lys278Thr | |
| ENST00000396222.6:c.688-1668A>C | ENSP00000379524.2:n.688-1668A>C | |
| ENST00000422447.7:c.833A>C | ENSP00000395337.3:p.Lys278Thr | |
| ENST00000430553.6:c.659A>C | ENSP00000406172.2:p.Lys220Thr | |
| ENST00000537296.5:n.1508A>C | ||
| ENST00000538451.1:n.720A>C | ||
| ENST00000540430.5:c.920A>C | ENSP00000445175.1:p.Lys307Thr | |
| ENST00000541097.5:c.*171A>C | ENSP00000443362.1:n.*171A>C | |
| ENST00000542179.1:c.833A>C | ENSP00000445331.1:p.Lys278Thr | |
| ENST00000545215.5:c.*577A>C | ENSP00000442637.1:n.*577A>C | |
| NM_001135239.1:c.659A>C | NP_001128711.1:p.Lys220Thr | |
| NM_001165414.1:c.920A>C | NP_001158886.1:p.Lys307Thr | |
| NM_001165415.1:c.688-1668A>C | NP_001158887.1:n.688-1668A>C | |
| NM_001165416.1:c.711-1546A>C | NP_001158888.1:n.711-1546A>C | |
| NM_005566.3:c.833A>C | NP_005557.1:p.Lys278Thr | |
| NR_028500.1:n.987A>C | ||
| NM_005566.4:c.833A>C MANE Select | NP_005557.1:p.Lys278Thr | |
| NM_001165415.2:c.688-1668A>C | NP_001158887.1:n.688-1668A>C | |
| NM_001135239.2:c.659A>C | NP_001128711.1:p.Lys220Thr | |
| NM_001165414.2:c.920A>C | NP_001158886.1:p.Lys307Thr | |
| NM_001165416.2:c.711-1546A>C | NP_001158888.1:n.711-1546A>C | |
| NR_028500.2:n.813A>C |