Linked Data
ClinVar Variation Id:
7792
dbSNP Id:
rs137853086
ExAC:
2:166626727 G / A
gnomAD v2:
2-166626727-G-A
gnomAD v3:
2-165770217-G-A
gnomAD v4:
2-165770217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165770217G>A , CM000664.2:g.165770217G>A | GRCh38 |
| NC_000002.11:g.166626727G>A , CM000664.1:g.166626727G>A | GRCh37 |
| NC_000002.10:g.166334973G>A | NCBI36 |
| NG_012069.1:g.29077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.484C>T MANE Select | ENSP00000376465.3:p.Arg162Ter | |
| ENST00000392701.7:c.484C>T | ENSP00000376465.3:p.Arg162Ter | |
| ENST00000412248.5:c.484C>T | ENSP00000412643.1:p.Arg162Ter | |
| NM_004482.3:c.484C>T | NP_004473.2:p.Arg162Ter | |
| XM_005246449.1:c.484C>T | XP_005246506.1:p.Arg162Ter | |
| XM_006712402.2:c.484C>T | XP_006712465.1:p.Arg162Ter | |
| XM_011510929.1:c.484C>T | XP_011509231.1:p.Arg162Ter | |
| XM_017003770.1:c.484C>T | XP_016859259.1:p.Arg162Ter | |
| XR_002959253.1:n.825C>T | ||
| NM_004482.4:c.484C>T MANE Select | NP_004473.2:p.Arg162Ter |