Linked Data
ClinVar Variation Id:
2933976
ClinVar RCV Id:
RCV003793534
dbSNP Id:
rs980893520
gnomAD v4:
10-119676647-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676647A>C , CM000672.2:g.119676647A>C | GRCh38 |
| NC_000010.10:g.121436159A>C , CM000672.1:g.121436159A>C | GRCh37 |
| NC_000010.9:g.121426149A>C | NCBI36 |
| NG_016125.1:g.30278A>C , LRG_742:g.30278A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1093A>C MANE Select | ENSP00000358081.4:p.Lys365Gln | |
| ENST00000369085.7:c.1093A>C | ENSP00000358081.3:p.Lys365Gln | |
| ENST00000450186.1:c.916A>C | ENSP00000410036.1:p.Lys306Gln | |
| NM_004281.3:c.1093A>C , LRG_742t1:c.1093A>C | NP_004272.2:p.Lys365Gln | |
| XM_005270287.1:c.1090A>C | XP_005270344.1:p.Lys364Gln | |
| XM_005270287.2:c.1090A>C | XP_005270344.1:p.Lys364Gln | |
| NM_004281.4:c.1093A>C MANE Select | NP_004272.2:p.Lys365Gln |