Linked Data
ClinVar Variation Id:
406561
ClinVar RCV Id:
RCV000456601
dbSNP Id:
rs771960655
gnomAD v2:
2-172644351-G-T
gnomAD v3:
2-171787841-G-T
gnomAD v4:
2-171787841-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171787841G>T , CM000664.2:g.171787841G>T | GRCh38 |
| NC_000002.11:g.172644351G>T , CM000664.1:g.172644351G>T | GRCh37 |
| NC_000002.10:g.172352597G>T | NCBI36 |
| NG_011781.1:g.111463C>A | |
| NG_011781.2:g.111463C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.1692C>A MANE Select | ENSP00000388658.2:p.Phe564Leu | |
| ENST00000263812.8:c.*1312C>A | ENSP00000263812.4:n.*1312C>A | |
| ENST00000422440.6:c.1692C>A | ENSP00000388658.2:p.Phe564Leu | |
| ENST00000472070.1:n.1102C>A | ||
| NM_003705.4:c.1692C>A | NP_003696.2:p.Phe564Leu | |
| NR_047549.1:n.1668C>A | ||
| XM_005246923.3:c.1641C>A | XP_005246980.1:p.Phe547Leu | |
| XM_011512069.1:c.1692C>A | XP_011510371.1:p.Phe564Leu | |
| XM_011512070.1:c.1419C>A | XP_011510372.1:p.Phe473Leu | |
| XR_923577.1:n.2692-5683G>T | ||
| XM_011512070.3:c.1419C>A | XP_011510372.1:p.Phe473Leu | |
| NM_003705.5:c.1692C>A MANE Select | NP_003696.2:p.Phe564Leu | |
| NR_047549.2:n.1606C>A |