Linked Data
ClinVar Variation Id:
2467938
ClinVar RCV Id:
RCV004263258
dbSNP Id:
rs200161468
ExAC:
10:131565180 G / T
gnomAD v2:
10-131565180-G-T
gnomAD v3:
10-129766916-G-T
gnomAD v4:
10-129766916-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766916G>T , CM000672.2:g.129766916G>T | GRCh38 |
| NC_000010.10:g.131565180G>T , CM000672.1:g.131565180G>T | GRCh37 |
| NC_000010.9:g.131455170G>T | NCBI36 |
| NG_052673.1:g.304733G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.636G>T | ENSP00000302111.7:p.Leu212Phe | |
| ENST00000651593.1:c.543G>T MANE Select | ENSP00000498729.1:p.Leu181Phe | |
| ENST00000306010.7:c.636G>T | ENSP00000302111.7:p.Leu212Phe | |
| NM_002412.3:c.636G>T | NP_002403.2:p.Leu212Phe | |
| NM_002412.4:c.636G>T | NP_002403.2:p.Leu212Phe | |
| XM_005252682.2:c.543G>T | XP_005252739.1:p.Leu181Phe | |
| XM_006717863.2:c.366G>T | XP_006717926.1:p.Leu122Phe | |
| XM_011539817.1:c.552G>T | XP_011538119.1:p.Leu184Phe | |
| NM_002412.5:c.543G>T MANE Select | NP_002403.3:p.Leu181Phe | |
| XM_017016275.1:c.366G>T | XP_016871764.1:p.Leu122Phe |