Linked Data
ClinVar Variation Id:
482132
ClinVar RCV Id:
RCV000573635
dbSNP Id:
rs1438147862
gnomAD v2:
5-131940676-G-C
gnomAD v4:
5-132604984-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604984G>C , CM000667.2:g.132604984G>C | GRCh38 |
| NC_000005.9:g.131940676G>C , CM000667.1:g.131940676G>C | GRCh37 |
| NC_000005.8:g.131968575G>C | NCBI36 |
| NG_021151.1:g.53061G>C | |
| NG_021151.2:g.53008G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2703G>C MANE Select | ENSP00000368100.4:p.Leu901Phe | |
| ENST00000638452.2:c.2406G>C | ENSP00000492349.2:p.Leu802Phe | |
| ENST00000638504.1:n.2311G>C | ||
| ENST00000638568.2:c.2406G>C | ENSP00000491158.2:p.Leu802Phe | |
| ENST00000639899.1:n.3222G>C | ||
| ENST00000640655.2:c.2406G>C | ENSP00000491596.2:p.Leu802Phe | |
| ENST00000651160.1:c.*847G>C | ENSP00000498829.1:n.*847G>C | |
| ENST00000651723.1:c.*2786G>C | ENSP00000498237.1:n.*2786G>C | |
| ENST00000652016.1:c.*920G>C | ENSP00000498267.1:n.*920G>C | |
| ENST00000378823.7:c.2703G>C | ENSP00000368100.4:p.Leu901Phe | |
| ENST00000423956.5:c.*889G>C | ENSP00000390971.1:n.*889G>C | |
| ENST00000533482.5:c.*2329G>C | ENSP00000431225.1:n.*2329G>C | |
| NM_005732.3:c.2703G>C | NP_005723.2:p.Leu901Phe | |
| NM_005732.4:c.2703G>C MANE Select | NP_005723.2:p.Leu901Phe |