Linked Data
ClinVar Variation Id:
730064
dbSNP Id:
rs33938662
ExAC:
16:87885397 G / A
gnomAD v2:
16-87885397-G-A
gnomAD v3:
16-87851791-G-A
gnomAD v4:
16-87851791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87851791G>A , CM000678.2:g.87851791G>A | GRCh38 |
| NC_000016.9:g.87885397G>A , CM000678.1:g.87885397G>A | GRCh37 |
| NC_000016.8:g.86442898G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261622.5:c.597C>T MANE Select | ENSP00000261622.4:p.Ala199= | |
| ENST00000261622.4:c.597C>T | ENSP00000261622.4:p.Ala199= | |
| ENST00000565644.5:c.-202C>T | ENSP00000454323.1:n.-202C>T | |
| NM_003486.5:c.597C>T | NP_003477.4:p.Ala199= | |
| XM_006721286.2:c.78C>T | XP_006721349.1:p.Ala26= | |
| XM_011523354.1:c.539-10636C>T | XP_011521656.1:n.539-10636C>T | |
| XM_011523355.1:c.66C>T | XP_011521657.1:p.Ala22= | |
| NM_003486.6:c.597C>T | NP_003477.4:p.Ala199= | |
| XM_006721286.3:c.132C>T | XP_006721349.2:p.Ala44= | |
| XM_017023735.1:c.597C>T | XP_016879224.1:p.Ala199= | |
| XM_017023736.1:c.539-10636C>T | XP_016879225.1:n.539-10636C>T | |
| XM_017023737.2:c.66C>T | XP_016879226.1:p.Ala22= | |
| NM_003486.7:c.597C>T MANE Select | NP_003477.4:p.Ala199= |