Linked Data
ClinVar Variation Id:
8890
ClinVar RCV Id:
RCV000009440
dbSNP Id:
rs104894049
gnomAD v4:
7-155806527-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155806527T>A , CM000669.2:g.155806527T>A | GRCh38 |
| NC_000007.13:g.155599221T>A , CM000669.1:g.155599221T>A | GRCh37 |
| NC_000007.12:g.155291982T>A | NCBI36 |
| NG_007504.2:g.10747A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.331A>T MANE Select | ENSP00000297261.2:p.Ile111Phe | |
| ENST00000297261.6:c.331A>T | ENSP00000297261.2:p.Ile111Phe | |
| ENST00000430104.5:c.70A>T | ENSP00000396621.1:p.Ile24Phe | |
| ENST00000435425.1:c.70A>T | ENSP00000413871.1:p.Ile24Phe | |
| ENST00000441114.5:c.70A>T | ENSP00000410546.1:p.Ile24Phe | |
| NM_000193.2:c.331A>T | NP_000184.1:p.Ile111Phe | |
| NM_000193.3:c.331A>T | NP_000184.1:p.Ile111Phe | |
| NM_001310462.1:c.70A>T | NP_001297391.1:p.Ile24Phe | |
| NR_132318.1:n.240A>T | ||
| NR_132319.1:n.240A>T | ||
| XM_011516479.1:c.70A>T | XP_011514781.1:p.Ile24Phe | |
| XM_011516480.1:c.70A>T | XP_011514782.1:p.Ile24Phe | |
| XM_011516481.1:c.70A>T | XP_011514783.1:p.Ile24Phe | |
| XM_011516482.1:c.-9A>T | XP_011514784.1:n.-9A>T | |
| XM_011516479.2:c.70A>T | XP_011514781.1:p.Ile24Phe | |
| XM_011516480.2:c.70A>T | XP_011514782.1:p.Ile24Phe | |
| NM_000193.4:c.331A>T MANE Select | NP_000184.1:p.Ile111Phe | |
| NM_001310462.2:c.70A>T | NP_001297391.1:p.Ile24Phe | |
| NR_132318.2:n.331A>T | ||
| NR_132319.2:n.331A>T |