Linked Data
ClinVar Variation Id:
1605539
ClinVar RCV Id:
RCV002137300
dbSNP Id:
rs774007988
ExAC:
11:71936196 C / T
gnomAD v2:
11-71936196-C-T
gnomAD v3:
11-72225152-C-T
gnomAD v4:
11-72225152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225152C>T , CM000673.2:g.72225152C>T | GRCh38 |
| NC_000011.9:g.71936196C>T , CM000673.1:g.71936196C>T | GRCh37 |
| NC_000011.8:g.71613844C>T | NCBI36 |
| NG_023253.1:g.5315C>T | |
| NG_023253.2:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.168C>T MANE Select | ENSP00000298229.2:p.Phe56= | |
| ENST00000298229.6:c.168C>T | ENSP00000298229.2:p.Phe56= | |
| ENST00000541544.1:n.84C>T | ||
| NM_001567.3:c.168C>T | NP_001558.3:p.Phe56= | |
| XM_005273978.3:c.168C>T | XP_005274035.1:p.Phe56= | |
| XM_005273979.3:c.168C>T | XP_005274036.1:p.Phe56= | |
| XM_011544999.1:c.168C>T | XP_011543301.1:p.Phe56= | |
| XM_011545000.1:c.168C>T | XP_011543302.1:p.Phe56= | |
| XM_005273979.4:c.168C>T | XP_005274036.1:p.Phe56= | |
| XM_011544999.2:c.168C>T | XP_011543301.1:p.Phe56= | |
| XM_024448501.1:c.168C>T | XP_024304269.1:p.Phe56= | |
| XM_024448502.1:c.168C>T | XP_024304270.1:p.Phe56= | |
| XM_024448503.1:c.47C>T | XP_024304271.1:p.Ser16Leu | |
| XM_024448504.1:c.168C>T | XP_024304272.1:p.Phe56= | |
| XM_024448505.1:c.168C>T | XP_024304273.1:p.Phe56= | |
| NM_001567.4:c.168C>T MANE Select | NP_001558.3:p.Phe56= |