Linked Data
ClinVar Variation Id:
1447843
dbSNP Id:
rs368523939
ExAC:
19:36339181 T / C
gnomAD v2:
19-36339181-T-C
gnomAD v3:
19-35848279-T-C
gnomAD v4:
19-35848279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848279T>C , CM000681.2:g.35848279T>C | GRCh38 |
| NC_000019.9:g.36339181T>C , CM000681.1:g.36339181T>C | GRCh37 |
| NC_000019.8:g.41031021T>C | NCBI36 |
| NG_013356.2:g.26009A>G , LRG_693:g.26009A>G | |
| NG_051206.1:g.1645T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1289A>G MANE Select | ENSP00000368190.4:p.Lys430Arg | |
| ENST00000353632.6:c.1289A>G | ENSP00000343634.5:p.Lys430Arg | |
| ENST00000378910.9:c.1289A>G | ENSP00000368190.4:p.Lys430Arg | |
| ENST00000592132.1:n.296A>G | ||
| NM_004646.3:c.1289A>G , LRG_693t1:c.1289A>G | NP_004637.1:p.Lys430Arg | |
| NM_004646.4:c.1289A>G MANE Select | NP_004637.1:p.Lys430Arg |