Linked Data
ClinVar Variation Id:
1956757
ClinVar RCV Id:
RCV002705781
dbSNP Id:
rs1948628587
gnomAD v3:
11-72225034-A-T
gnomAD v4:
11-72225034-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225034A>T , CM000673.2:g.72225034A>T | GRCh38 |
| NC_000011.9:g.71936078A>T , CM000673.1:g.71936078A>T | GRCh37 |
| NC_000011.8:g.71613726A>T | NCBI36 |
| NG_023253.1:g.5197A>T | |
| NG_023253.2:g.5197A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.50A>T MANE Select | ENSP00000298229.2:p.Gln17Leu | |
| ENST00000298229.6:c.50A>T | ENSP00000298229.2:p.Gln17Leu | |
| ENST00000540973.1:c.50A>T | ENSP00000440904.1:p.Gln17Leu | |
| ENST00000543234.1:c.50A>T | ENSP00000440512.1:p.Gln17Leu | |
| NM_001567.3:c.50A>T | NP_001558.3:p.Gln17Leu | |
| XM_005273978.3:c.50A>T | XP_005274035.1:p.Gln17Leu | |
| XM_005273979.3:c.50A>T | XP_005274036.1:p.Gln17Leu | |
| XM_011544999.1:c.50A>T | XP_011543301.1:p.Gln17Leu | |
| XM_011545000.1:c.50A>T | XP_011543302.1:p.Gln17Leu | |
| XM_005273979.4:c.50A>T | XP_005274036.1:p.Gln17Leu | |
| XM_011544999.2:c.50A>T | XP_011543301.1:p.Gln17Leu | |
| XM_024448501.1:c.50A>T | XP_024304269.1:p.Gln17Leu | |
| XM_024448502.1:c.50A>T | XP_024304270.1:p.Gln17Leu | |
| XM_024448503.1:c.-72A>T | XP_024304271.1:n.-72A>T | |
| XM_024448504.1:c.50A>T | XP_024304272.1:p.Gln17Leu | |
| XM_024448505.1:c.50A>T | XP_024304273.1:p.Gln17Leu | |
| NM_001567.4:c.50A>T MANE Select | NP_001558.3:p.Gln17Leu |