Linked Data
ClinVar Variation Id:
372248
ClinVar RCV Id:
RCV000412548
dbSNP Id:
rs1057517685
gnomAD v2:
14-61442481-T-C
gnomAD v3:
14-60975763-T-C
gnomAD v4:
14-60975763-T-C
PubMed:
PMID:26189817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60975763T>C , CM000676.2:g.60975763T>C | GRCh38 |
| NC_000014.8:g.61442481T>C , CM000676.1:g.61442481T>C | GRCh37 |
| NC_000014.7:g.60512234T>C | NCBI36 |
| NG_053119.1:g.10928A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261249.7:c.1156A>G MANE Select | ENSP00000261249.6:p.Met386Val | |
| ENST00000261249.6:c.1156A>G | ENSP00000261249.6:p.Met386Val | |
| NM_020810.3:c.1156A>G MANE Select | NP_065861.3:p.Met386Val | |
| XM_005267916.2:c.1240A>G | XP_005267973.2:p.Met414Val | |
| XM_011537017.1:c.1237A>G | XP_011535319.1:p.Met413Val | |
| NM_001350253.1:c.1240A>G | NP_001337182.1:p.Met414Val | |
| NM_001350254.1:c.1237A>G | NP_001337183.1:p.Met413Val |