Linked Data
ClinVar Variation Id:
2389092
ClinVar RCV Id:
RCV002704154
dbSNP Id:
rs141222937
ExAC:
12:102179916 T / A
gnomAD v2:
12-102179916-T-A
gnomAD v3:
12-101786138-T-A
gnomAD v4:
12-101786138-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786138T>A , CM000674.2:g.101786138T>A | GRCh38 |
| NC_000012.11:g.102179916T>A , CM000674.1:g.102179916T>A | GRCh37 |
| NC_000012.10:g.100704047T>A | NCBI36 |
| NG_021243.1:g.49730A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.445A>T MANE Select | ENSP00000299314.7:p.Ile149Phe | |
| ENST00000299314.11:c.445A>T | ENSP00000299314.7:p.Ile149Phe | |
| ENST00000549940.5:c.445A>T | ENSP00000449150.1:p.Ile149Phe | |
| ENST00000550352.1:n.239A>T | ||
| ENST00000552681.1:c.79A>T | ENSP00000449217.1:p.Ile27Phe | |
| NM_024312.4:c.445A>T | NP_077288.2:p.Ile149Phe | |
| XM_006719593.2:c.445A>T | XP_006719656.1:p.Ile149Phe | |
| XM_011538731.1:c.364A>T | XP_011537033.1:p.Ile122Phe | |
| XM_006719593.3:c.445A>T | XP_006719656.1:p.Ile149Phe | |
| XM_011538731.2:c.364A>T | XP_011537033.1:p.Ile122Phe | |
| XM_017019961.1:c.229A>T | XP_016875450.1:p.Ile77Phe | |
| XM_017019962.2:c.-906A>T | XP_016875451.1:n.-906A>T | |
| NM_024312.5:c.445A>T MANE Select | NP_077288.2:p.Ile149Phe |