Linked Data
ClinVar Variation Id:
324769
dbSNP Id:
rs142749216
ExAC:
17:6428707 G / A
gnomAD v2:
17-6428707-G-A
gnomAD v3:
17-6525387-G-A
gnomAD v4:
17-6525387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6525387G>A , CM000679.2:g.6525387G>A | GRCh38 |
| NC_000017.10:g.6428707G>A , CM000679.1:g.6428707G>A | GRCh37 |
| NC_000017.9:g.6369431G>A | NCBI36 |
| NG_016020.1:g.36171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262483.13:c.195C>T MANE Select | ENSP00000262483.8:p.Ile65= | |
| ENST00000262483.12:c.195C>T | ENSP00000262483.8:p.Ile65= | |
| ENST00000421306.7:c.118+12600C>T | ENSP00000407882.3:n.118+12600C>T | |
| NM_001165966.1:c.118+12600C>T | NP_001159438.1:n.118+12600C>T | |
| NM_031220.3:c.195C>T | NP_112497.2:p.Ile65= | |
| XM_011524014.1:c.195C>T | XP_011522316.1:p.Ile65= | |
| XM_011524015.1:c.195C>T | XP_011522317.1:p.Ile65= | |
| XM_011524016.1:c.195C>T | XP_011522318.1:p.Ile65= | |
| XM_011524017.1:c.195C>T | XP_011522319.1:p.Ile65= | |
| XM_011524015.3:c.195C>T | XP_011522317.1:p.Ile65= | |
| XM_011524016.3:c.195C>T | XP_011522318.1:p.Ile65= | |
| XM_011524017.3:c.195C>T | XP_011522319.1:p.Ile65= | |
| NM_031220.4:c.195C>T MANE Select | NP_112497.2:p.Ile65= | |
| NM_001165966.2:c.118+12600C>T | NP_001159438.1:n.118+12600C>T |