Linked Data
ClinVar Variation Id:
4301
ClinVar RCV Id:
RCV000004540
RCV000004541
RCV000004542
RCV000020158
RCV000790654
RCV002482827
RCV004018559
dbSNP Id:
rs381737
ExAC:
1:155207932 A / T
gnomAD v2:
1-155207932-A-T
gnomAD v3:
1-155238141-A-T
gnomAD v4:
1-155238141-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238141A>T , CM000663.2:g.155238141A>T | GRCh38 |
| NC_000001.10:g.155207932A>T , CM000663.1:g.155207932A>T | GRCh37 |
| NC_000001.9:g.153474556A>T | NCBI36 |
| NG_009783.1:g.11557T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.754T>A MANE Select | ENSP00000357357.3:p.Phe252Ile | |
| ENST00000327247.9:c.754T>A | ENSP00000314508.5:p.Phe252Ile | |
| ENST00000368373.7:c.754T>A | ENSP00000357357.3:p.Phe252Ile | |
| ENST00000427500.7:c.607T>A | ENSP00000402577.2:p.Phe203Ile | |
| ENST00000428024.3:c.493T>A | ENSP00000397986.2:p.Phe165Ile | |
| ENST00000460156.1:n.541T>A | ||
| ENST00000484489.5:n.339+1832T>A | ||
| ENST00000491081.5:n.359T>A | ||
| ENST00000497670.5:n.377T>A | ||
| NM_000157.3:c.754T>A | NP_000148.2:p.Phe252Ile | |
| NM_001005741.2:c.754T>A | NP_001005741.1:p.Phe252Ile | |
| NM_001005742.2:c.754T>A | NP_001005742.1:p.Phe252Ile | |
| NM_001171811.1:c.493T>A | NP_001165282.1:p.Phe165Ile | |
| NM_001171812.1:c.607T>A | NP_001165283.1:p.Phe203Ile | |
| XM_006711270.1:c.754T>A | XP_006711333.1:p.Phe252Ile | |
| XM_011509407.1:c.754T>A | XP_011507709.1:p.Phe252Ile | |
| NM_000157.4:c.754T>A MANE Select | NP_000148.2:p.Phe252Ile | |
| NM_001005741.3:c.754T>A | NP_001005741.1:p.Phe252Ile | |
| NM_001005742.3:c.754T>A | NP_001005742.1:p.Phe252Ile | |
| NM_001171811.2:c.493T>A | NP_001165282.1:p.Phe165Ile | |
| NM_001171812.2:c.607T>A | NP_001165283.1:p.Phe203Ile |