Linked Data
ClinVar Variation Id:
858698
dbSNP Id:
rs773364076
ExAC:
16:2096331 C / A
gnomAD v2:
16-2096331-C-A
gnomAD v4:
16-2046330-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046330C>A , CM000678.2:g.2046330C>A | GRCh38 |
| NC_000016.9:g.2096331C>A , CM000678.1:g.2096331C>A | GRCh37 |
| NC_000016.8:g.2036332C>A | NCBI36 |
| NG_005895.1:g.2025C>A , LRG_487:g.2025C>A | |
| NG_008412.1:g.6537G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.152G>T MANE Select | ENSP00000498421.1:p.Arg51Leu | |
| ENST00000651583.1:c.107G>T | ENSP00000498821.1:p.Arg36Leu | |
| ENST00000219066.5:c.176G>T | ENSP00000219066.1:p.Arg59Leu | |
| ENST00000561841.1:c.72G>T | ||
| ENST00000566380.5:c.115G>T | ||
| ENST00000568513.5:c.123G>T | ||
| NM_002528.5:c.176G>T | NP_002519.1:p.Arg59Leu | |
| XM_011522505.1:c.176G>T | XP_011520807.1:p.Arg59Leu | |
| NM_001318193.1:c.176G>T | NP_001305122.1:p.Arg59Leu | |
| NM_001318194.1:c.-27G>T | NP_001305123.1:n.-27G>T | |
| NM_002528.6:c.176G>T | NP_002519.1:p.Arg59Leu | |
| XM_017023253.1:c.176G>T | XP_016878742.1:p.Arg59Leu | |
| NM_001318193.2:c.152G>T | NP_001305122.2:p.Arg51Leu | |
| NM_002528.7:c.152G>T MANE Select | NP_002519.2:p.Arg51Leu | |
| NM_001318194.2:c.-27G>T | NP_001305123.1:n.-27G>T |