Linked Data
ClinVar Variation Id:
640191
ClinVar RCV Id:
RCV000793162
dbSNP Id:
rs772926628
ExAC:
15:67073382 G / C
gnomAD v2:
15-67073382-G-C
gnomAD v3:
15-66781044-G-C
gnomAD v4:
15-66781044-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781044G>C , CM000677.2:g.66781044G>C | GRCh38 |
| NC_000015.9:g.67073382G>C , CM000677.1:g.67073382G>C | GRCh37 |
| NC_000015.8:g.64860436G>C | NCBI36 |
| NG_012244.1:g.83709G>C | |
| NG_012244.2:g.83709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1000G>C MANE Select | ENSP00000288840.5:p.Val334Leu | |
| ENST00000288840.9:c.1000G>C | ENSP00000288840.5:p.Val334Leu | |
| ENST00000557916.5:c.1132G>C | ENSP00000452955.1:n.1132G>C | |
| ENST00000559931.5:c.304G>C | ENSP00000453446.1:n.304G>C | |
| NM_005585.4:c.1000G>C | NP_005576.3:p.Val334Leu | |
| NR_027654.1:n.2055G>C | ||
| XM_011521561.1:c.217G>C | XP_011519863.1:p.Val73Leu | |
| XR_931825.1:n.2399G>C | ||
| XM_011521561.2:c.217G>C | XP_011519863.1:p.Val73Leu | |
| NM_005585.5:c.1000G>C MANE Select | NP_005576.3:p.Val334Leu | |
| NR_027654.2:n.2155G>C |