Linked Data
ClinVar Variation Id:
252745
ClinVar RCV Id:
RCV000239224
dbSNP Id:
rs751257354
ExAC:
19:6477260 A / G
gnomAD v2:
19-6477260-A-G
gnomAD v3:
19-6477249-A-G
gnomAD v4:
19-6477249-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6477249A>G , CM000681.2:g.6477249A>G | GRCh38 |
| NC_000019.9:g.6477260A>G , CM000681.1:g.6477260A>G | GRCh37 |
| NC_000019.8:g.6428260A>G | NCBI36 |
| NG_054762.1:g.9560T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381480.7:c.482T>C MANE Select | ENSP00000370889.1:p.Ile161Thr | |
| ENST00000381480.6:c.482T>C | ENSP00000370889.1:p.Ile161Thr | |
| ENST00000543576.5:c.350T>C | ENSP00000437805.1:p.Ile117Thr | |
| ENST00000586046.5:c.*148T>C | ENSP00000466334.1:n.*148T>C | |
| ENST00000588988.5:n.134T>C | ||
| ENST00000589491.1:n.340T>C | ||
| ENST00000590173.5:c.350T>C | ENSP00000467008.1:p.Ile117Thr | |
| ENST00000590473.5:c.350T>C | ENSP00000466583.1:p.Ile117Thr | |
| ENST00000590867.5:c.350T>C | ENSP00000465675.1:p.Ile117Thr | |
| ENST00000591030.5:n.530T>C | ||
| ENST00000592543.5:n.500T>C | ||
| NM_001290331.1:c.350T>C | NP_001277260.1:p.Ile117Thr | |
| NM_024898.3:c.482T>C | NP_079174.2:p.Ile161Thr | |
| XM_006722905.2:c.350T>C | XP_006722968.2:p.Ile117Thr | |
| XM_006722906.2:c.350T>C | XP_006722969.1:p.Ile117Thr | |
| XM_011528318.1:c.350T>C | XP_011526620.1:p.Ile117Thr | |
| XM_006722905.3:c.893T>C | XP_006722968.3:p.Ile298Thr | |
| XM_006722906.3:c.350T>C | XP_006722969.1:p.Ile117Thr | |
| XM_011528318.2:c.350T>C | XP_011526620.1:p.Ile117Thr | |
| XM_024451727.1:c.893T>C | XP_024307495.1:p.Ile298Thr | |
| NM_024898.4:c.482T>C MANE Select | NP_079174.2:p.Ile161Thr | |
| NM_001290331.2:c.350T>C | NP_001277260.1:p.Ile117Thr |