Linked Data
ClinVar Variation Id:
1981749
ClinVar RCV Id:
RCV002766413
dbSNP Id:
rs1035855384
gnomAD v2:
11-71936206-G-C
gnomAD v3:
11-72225162-G-C
gnomAD v4:
11-72225162-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225162G>C , CM000673.2:g.72225162G>C | GRCh38 |
| NC_000011.9:g.71936206G>C , CM000673.1:g.71936206G>C | GRCh37 |
| NC_000011.8:g.71613854G>C | NCBI36 |
| NG_023253.1:g.5325G>C | |
| NG_023253.2:g.5325G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.178G>C MANE Select | ENSP00000298229.2:p.Val60Leu | |
| ENST00000298229.6:c.178G>C | ENSP00000298229.2:p.Val60Leu | |
| ENST00000541544.1:n.94G>C | ||
| NM_001567.3:c.178G>C | NP_001558.3:p.Val60Leu | |
| XM_005273978.3:c.178G>C | XP_005274035.1:p.Val60Leu | |
| XM_005273979.3:c.178G>C | XP_005274036.1:p.Val60Leu | |
| XM_011544999.1:c.178G>C | XP_011543301.1:p.Val60Leu | |
| XM_011545000.1:c.178G>C | XP_011543302.1:p.Val60Leu | |
| XM_005273979.4:c.178G>C | XP_005274036.1:p.Val60Leu | |
| XM_011544999.2:c.178G>C | XP_011543301.1:p.Val60Leu | |
| XM_024448501.1:c.178G>C | XP_024304269.1:p.Val60Leu | |
| XM_024448502.1:c.178G>C | XP_024304270.1:p.Val60Leu | |
| XM_024448503.1:c.57G>C | XP_024304271.1:p.Ala19= | |
| XM_024448504.1:c.178G>C | XP_024304272.1:p.Val60Leu | |
| XM_024448505.1:c.178G>C | XP_024304273.1:p.Val60Leu | |
| NM_001567.4:c.178G>C MANE Select | NP_001558.3:p.Val60Leu |