Linked Data
dbSNP Id:
rs749660557
ExAC:
18:13884832 A / G
gnomAD v2:
18-13884832-A-G
gnomAD v4:
18-13884833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884833A>G , CM000680.2:g.13884833A>G | GRCh38 |
| NC_000018.9:g.13884832A>G , CM000680.1:g.13884832A>G | GRCh37 |
| NC_000018.8:g.13874832A>G | NCBI36 |
| NG_011819.1:g.35704T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.686T>C MANE Select | ENSP00000333821.2:p.Ile229Thr | |
| ENST00000327606.3:c.686T>C | ENSP00000333821.2:p.Ile229Thr | |
| NM_000529.2:c.686T>C MANE Select | NP_000520.1:p.Ile229Thr | |
| NM_001291911.1:c.686T>C | NP_001278840.1:p.Ile229Thr | |
| XM_017025781.1:c.686T>C | XP_016881270.1:p.Ile229Thr |