Linked Data
ClinVar Variation Id:
1426286
ClinVar RCV Id:
RCV001957616
dbSNP Id:
rs200876455
ExAC:
6:42689562 A / T
gnomAD v2:
6-42689562-A-T
gnomAD v3:
6-42721824-A-T
gnomAD v4:
6-42721824-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721824A>T , CM000668.2:g.42721824A>T | GRCh38 |
| NC_000006.11:g.42689562A>T , CM000668.1:g.42689562A>T | GRCh37 |
| NC_000006.10:g.42797540A>T | NCBI36 |
| NG_009176.1:g.5797T>A | |
| NG_009176.2:g.5797T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.511T>A MANE Select | ENSP00000230381.5:p.Phe171Ile | |
| ENST00000230381.6:c.511T>A | ENSP00000230381.5:p.Phe171Ile | |
| NM_000322.4:c.511T>A | NP_000313.2:p.Phe171Ile | |
| XR_427834.2:n.1166T>A | ||
| XR_926295.1:n.1166T>A | ||
| XR_427834.4:n.1216T>A | ||
| XR_926295.3:n.1216T>A | ||
| NM_000322.5:c.511T>A MANE Select | NP_000313.2:p.Phe171Ile |