Linked Data
ClinVar Variation Id:
2271273
ClinVar RCV Id:
RCV002812578
dbSNP Id:
rs368472660
ExAC:
18:13884874 A / T
gnomAD v2:
18-13884874-A-T
gnomAD v3:
18-13884875-A-T
gnomAD v4:
18-13884875-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884875A>T , CM000680.2:g.13884875A>T | GRCh38 |
| NC_000018.9:g.13884874A>T , CM000680.1:g.13884874A>T | GRCh37 |
| NC_000018.8:g.13874874A>T | NCBI36 |
| NG_011819.1:g.35662T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.644T>A MANE Select | ENSP00000333821.2:p.Met215Lys | |
| ENST00000327606.3:c.644T>A | ENSP00000333821.2:p.Met215Lys | |
| NM_000529.2:c.644T>A MANE Select | NP_000520.1:p.Met215Lys | |
| NM_001291911.1:c.644T>A | NP_001278840.1:p.Met215Lys | |
| XM_017025781.1:c.644T>A | XP_016881270.1:p.Met215Lys |