Linked Data
ClinVar Variation Id:
129892
dbSNP Id:
rs16957702
ExAC:
17:8792093 G / A
gnomAD v2:
17-8792093-G-A
gnomAD v3:
17-8888776-G-A
gnomAD v4:
17-8888776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8888776G>A , CM000679.2:g.8888776G>A | GRCh38 |
| NC_000017.10:g.8792093G>A , CM000679.1:g.8792093G>A | GRCh37 |
| NC_000017.9:g.8732818G>A | NCBI36 |
| NG_030374.1:g.81937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447110.6:c.1011C>T MANE Select | ENSP00000392812.1:p.Asp337= | |
| ENST00000269300.8:c.*200C>T | ENSP00000269300.3:n.*200C>T | |
| ENST00000447110.5:c.1011C>T | ENSP00000392812.1:p.Asp337= | |
| ENST00000578457.5:n.1091C>T | ||
| ENST00000578515.5:n.1136C>T | ||
| ENST00000580959.5:n.890C>T | ||
| ENST00000581552.5:c.1011C>T | ENSP00000462433.1:p.Asp337= | |
| ENST00000584456.5:n.729C>T | ||
| ENST00000584803.1:c.1011C>T | ENSP00000462680.1:p.Asp337= | |
| ENST00000611902.4:c.-148C>T | ENSP00000477795.1:n.-148C>T | |
| ENST00000616147.4:c.-148C>T | ENSP00000484211.1:n.-148C>T | |
| ENST00000623421.3:c.-148C>T | ENSP00000485280.1:n.-148C>T | |
| NM_001142633.2:c.1011C>T | NP_001136105.1:p.Asp337= | |
| NM_001251851.1:c.-148C>T | NP_001238780.1:n.-148C>T | |
| NM_001251852.1:c.-148C>T | NP_001238781.1:n.-148C>T | |
| NM_001251853.1:c.-148C>T | NP_001238782.1:n.-148C>T | |
| NM_001251855.1:c.-148C>T | NP_001238784.1:n.-148C>T | |
| NM_014308.3:c.1011C>T | NP_055123.2:p.Asp337= | |
| XM_005256579.3:c.1011C>T | XP_005256636.1:p.Asp337= | |
| XM_005256580.3:c.1011C>T | XP_005256637.1:p.Asp337= | |
| XM_011523778.1:c.741+363C>T | XP_011522080.1:n.741+363C>T | |
| NM_001251851.2:c.-148C>T | NP_001238780.1:n.-148C>T | |
| NM_001142633.3:c.1011C>T MANE Select | NP_001136105.1:p.Asp337= | |
| NM_001251852.2:c.-148C>T | NP_001238781.1:n.-148C>T | |
| NM_001251853.2:c.-148C>T | NP_001238782.1:n.-148C>T | |
| NM_001251855.2:c.-148C>T | NP_001238784.1:n.-148C>T | |
| NM_001388396.1:c.1011C>T | NP_001375325.1:p.Asp337= | |
| NM_001388397.1:c.-148C>T | NP_001375326.1:n.-148C>T | |
| NM_001388398.1:c.-148C>T | NP_001375327.1:n.-148C>T | |
| NM_001388399.1:c.-148C>T | NP_001375328.1:n.-148C>T | |
| NM_001388400.1:c.-148C>T | NP_001375329.1:n.-148C>T | |
| NM_014308.4:c.1011C>T | NP_055123.2:p.Asp337= |