Linked Data
ClinVar Variation Id:
3139184
ClinVar RCV Id:
RCV004427528
dbSNP Id:
rs1306192471
gnomAD v2:
3-191093178-A-T
gnomAD v4:
3-191375389-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375389A>T , CM000665.2:g.191375389A>T | GRCh38 |
| NC_000003.11:g.191093178A>T , CM000665.1:g.191093178A>T | GRCh37 |
| NC_000003.10:g.192575872A>T | NCBI36 |
| NG_008994.1:g.51305A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.776A>T MANE Select | ENSP00000376249.4:p.Asn259Ile | |
| ENST00000392456.4:c.449-4770A>T | ENSP00000376250.4:n.449-4770A>T | |
| ENST00000392455.7:c.449-4770A>T | ENSP00000376249.3:n.449-4770A>T | |
| ENST00000392456.3:c.776A>T | ENSP00000376250.3:p.Asn259Ile | |
| NM_174908.3:c.449-4770A>T | NP_777568.1:n.449-4770A>T | |
| NM_178335.2:c.776A>T | NP_848018.1:p.Asn259Ile | |
| XM_011512460.1:c.776A>T | XP_011510762.1:p.Asn259Ile | |
| NM_178335.3:c.776A>T MANE Select | NP_848018.1:p.Asn259Ile | |
| NM_174908.4:c.449-4770A>T | NP_777568.1:n.449-4770A>T |