Linked Data
ClinVar Variation Id:
254179
ClinVar RCV Id:
RCV000496983
dbSNP Id:
rs768663992
ExAC:
16:3558407 T / G
gnomAD v2:
16-3558407-T-G
gnomAD v3:
16-3508407-T-G
gnomAD v4:
16-3508407-T-G
PubMed:
PMID:28679688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3508407T>G , CM000678.2:g.3508407T>G | GRCh38 |
| NC_000016.9:g.3558407T>G , CM000678.1:g.3558407T>G | GRCh37 |
| NC_000016.8:g.3498408T>G | NCBI36 |
| NG_047131.1:g.12463T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576634.6:c.338T>G MANE Select | ENSP00000460850.1:p.Met113Arg | |
| ENST00000341633.9:c.338T>G | ENSP00000344392.5:p.Met113Arg | |
| ENST00000571025.5:c.338T>G | ENSP00000460706.1:p.Met113Arg | |
| ENST00000573370.5:c.*100T>G | ENSP00000460977.1:n.*100T>G | |
| ENST00000574369.5:c.219+1992T>G | ENSP00000458886.1:n.219+1992T>G | |
| ENST00000574592.5:c.*100T>G | ENSP00000459602.1:n.*100T>G | |
| ENST00000575134.1:c.107+1992T>G | ENSP00000459399.1:n.107+1992T>G | |
| ENST00000576117.1:c.305T>G | ENSP00000461063.1:p.Met102Arg | |
| ENST00000576634.5:c.338T>G | ENSP00000460850.1:p.Met113Arg | |
| NM_015041.2:c.338T>G | NP_055856.1:p.Met113Arg | |
| XM_006720867.2:c.122T>G | XP_006720930.1:p.Met41Arg | |
| NM_001330454.1:c.338T>G | NP_001317383.1:p.Met113Arg | |
| XM_006720867.3:c.122T>G | XP_006720930.1:p.Met41Arg | |
| XM_017023073.1:c.122T>G | XP_016878562.1:p.Met41Arg | |
| XR_001751874.2:n.428T>G | ||
| XR_002957794.1:n.149T>G | ||
| NM_015041.3:c.338T>G MANE Select | NP_055856.1:p.Met113Arg | |
| NM_001330454.2:c.338T>G | NP_001317383.1:p.Met113Arg |