Linked Data
ClinVar Variation Id:
323501
dbSNP Id:
rs765911147
ExAC:
17:42328552 A / G
gnomAD v2:
17-42328552-A-G
gnomAD v3:
17-44251184-A-G
gnomAD v4:
17-44251184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251184A>G , CM000679.2:g.44251184A>G | GRCh38 |
| NC_000017.10:g.42328552A>G , CM000679.1:g.42328552A>G | GRCh37 |
| NC_000017.9:g.39684078A>G | NCBI36 |
| NG_007498.1:g.21951T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2630T>C MANE Select | ENSP00000262418.6:p.Ile877Thr | |
| ENST00000262418.10:c.2630T>C | ENSP00000262418.6:p.Ile877Thr | |
| ENST00000399246.3:c.1532T>C | ENSP00000382190.3:p.Ile511Thr | |
| NM_000342.3:c.2630T>C | NP_000333.1:p.Ile877Thr | |
| XM_005257593.3:c.2435T>C | XP_005257650.1:p.Ile812Thr | |
| XM_011525129.1:c.2540T>C | XP_011523431.1:p.Ile847Thr | |
| XM_005257593.5:c.2435T>C | XP_005257650.1:p.Ile812Thr | |
| XM_011525129.2:c.2540T>C | XP_011523431.1:p.Ile847Thr | |
| NM_000342.4:c.2630T>C MANE Select | NP_000333.1:p.Ile877Thr |