Linked Data
ClinVar Variation Id:
1955232
ClinVar RCV Id:
RCV002690538
dbSNP Id:
rs770124563
ExAC:
5:33944883 A / G
gnomAD v2:
5-33944883-A-G
gnomAD v3:
5-33944778-A-G
gnomAD v4:
5-33944778-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944778A>G , CM000667.2:g.33944778A>G | GRCh38 |
| NC_000005.9:g.33944883A>G , CM000667.1:g.33944883A>G | GRCh37 |
| NC_000005.8:g.33980640A>G | NCBI36 |
| NG_011691.2:g.44898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1463T>C MANE Select | ENSP00000296589.4:p.Ile488Thr | |
| ENST00000296589.8:c.1463T>C | ENSP00000296589.4:p.Ile488Thr | |
| NM_016180.4:c.1463T>C | NP_057264.3:p.Ile488Thr | |
| XM_011514051.1:c.1061T>C | XP_011512353.1:p.Ile354Thr | |
| NM_016180.5:c.1463T>C MANE Select | NP_057264.4:p.Ile488Thr |