Linked Data
ClinVar Variation Id:
698260
dbSNP Id:
rs146752157
ExAC:
7:98790671 G / A
gnomAD v2:
7-98790671-G-A
gnomAD v3:
7-99193048-G-A
gnomAD v4:
7-99193048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99193048G>A , CM000669.2:g.99193048G>A | GRCh38 |
| NC_000007.13:g.98790671G>A , CM000669.1:g.98790671G>A | GRCh37 |
| NC_000007.12:g.98628607G>A | NCBI36 |
| NG_051213.1:g.31370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327442.7:c.607C>T MANE Select | ENSP00000330878.6:p.Leu203Phe | |
| ENST00000681060.1:c.607C>T | ENSP00000506489.1:p.Leu203Phe | |
| ENST00000327442.6:c.607C>T | ENSP00000330878.6:p.Leu203Phe | |
| NM_001145715.1:c.607C>T | NP_001139187.1:p.Leu203Phe | |
| XM_006715987.2:c.607C>T | XP_006716050.1:p.Leu203Phe | |
| XM_011516215.1:c.688C>T | XP_011514517.1:p.Leu230Phe | |
| XM_011516216.1:c.676C>T | XP_011514518.1:p.Leu226Phe | |
| XM_011516217.1:c.655C>T | XP_011514519.1:p.Leu219Phe | |
| XM_011516218.1:c.607C>T | XP_011514520.1:p.Leu203Phe | |
| XM_011516219.1:c.607C>T | XP_011514521.1:p.Leu203Phe | |
| XM_011516220.1:c.607C>T | XP_011514522.1:p.Leu203Phe | |
| XM_011516221.1:c.319C>T | XP_011514523.1:p.Leu107Phe | |
| NM_001145715.2:c.607C>T | NP_001139187.1:p.Leu203Phe | |
| XM_011516215.2:c.688C>T | XP_011514517.1:p.Leu230Phe | |
| XM_017012208.1:c.688C>T | XP_016867697.1:p.Leu230Phe | |
| XM_017012209.1:c.676C>T | XP_016867698.1:p.Leu226Phe | |
| XM_017012210.1:c.655C>T | XP_016867699.1:p.Leu219Phe | |
| XM_017012211.1:c.688C>T | XP_016867700.1:p.Leu230Phe | |
| XM_017012212.1:c.607C>T | XP_016867701.1:p.Leu203Phe | |
| XM_017012213.1:c.607C>T | XP_016867702.1:p.Leu203Phe | |
| XM_017012214.1:c.607C>T | XP_016867703.1:p.Leu203Phe | |
| XM_017012215.1:c.688C>T | XP_016867704.1:p.Leu230Phe | |
| XM_017012216.1:c.319C>T | XP_016867705.1:p.Leu107Phe | |
| NM_001145715.3:c.607C>T MANE Select | NP_001139187.1:p.Leu203Phe |