Linked Data
ClinVar Variation Id:
39250
ClinVar RCV Id:
RCV000032527
dbSNP Id:
rs199476200
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208931A>C , CM000666.2:g.186208931A>C | GRCh38 |
| NC_000004.11:g.187130085A>C , CM000666.1:g.187130085A>C | GRCh37 |
| NC_000004.10:g.187367079A>C | NCBI36 |
| NG_007965.1:g.22412A>C | |
| NG_012095.2:g.4953A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1157A>C MANE Select | ENSP00000368079.4:p.Lys386Thr | |
| ENST00000378802.4:c.1157A>C | ENSP00000368079.4:p.Lys386Thr | |
| ENST00000502665.1:n.392A>C | ||
| ENST00000507209.5:n.5855A>C | ||
| ENST00000513354.5:n.247A>C | ||
| NM_207352.3:c.1157A>C | NP_997235.3:p.Lys386Thr | |
| XM_005262935.2:c.1157A>C | XP_005262992.1:p.Lys386Thr | |
| XM_006714184.2:c.761A>C | XP_006714247.1:p.Lys254Thr | |
| XM_005262935.4:c.1157A>C | XP_005262992.1:p.Lys386Thr | |
| XM_017008037.1:c.761A>C | XP_016863526.1:p.Lys254Thr | |
| NM_207352.4:c.1157A>C MANE Select | NP_997235.3:p.Lys386Thr |