Linked Data
ClinVar Variation Id:
471691
ClinVar RCV Id:
RCV000534595
dbSNP Id:
rs56228802
ExAC:
5:56177692 G / C
gnomAD v2:
5-56177692-G-C
gnomAD v3:
5-56881865-G-C
gnomAD v4:
5-56881865-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881865G>C , CM000667.2:g.56881865G>C | GRCh38 |
| NC_000005.9:g.56177692G>C , CM000667.1:g.56177692G>C | GRCh37 |
| NC_000005.8:g.56213449G>C | NCBI36 |
| NG_031884.1:g.71793G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2665G>C MANE Select | ENSP00000382423.3:p.Val889Leu | |
| ENST00000399503.3:c.2665G>C | ENSP00000382423.3:p.Val889Leu | |
| NM_005921.1:c.2665G>C | NP_005912.1:p.Val889Leu | |
| XM_005248519.3:c.2287G>C | XP_005248576.2:p.Val763Leu | |
| XM_011543406.1:c.2410G>C | XP_011541708.1:p.Val804Leu | |
| XM_011543407.1:c.2386G>C | XP_011541709.1:p.Val796Leu | |
| XM_011543408.1:c.2665G>C | XP_011541710.1:p.Val889Leu | |
| XM_017009484.1:c.2254G>C | XP_016864973.1:p.Val752Leu | |
| XM_017009485.1:c.2176G>C | XP_016864974.1:p.Val726Leu | |
| XR_001742068.2:n.2696G>C | ||
| NM_005921.2:c.2665G>C MANE Select | NP_005912.1:p.Val889Leu |