Linked Data
ClinVar Variation Id:
762847
ClinVar RCV Id:
RCV001159590
dbSNP Id:
rs774204716
ExAC:
7:65547390 G / C
gnomAD v2:
7-65547390-G-C
gnomAD v3:
7-66082403-G-C
gnomAD v4:
7-66082403-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66082403G>C , CM000669.2:g.66082403G>C | GRCh38 |
| NC_000007.13:g.65547390G>C , CM000669.1:g.65547390G>C | GRCh37 |
| NC_000007.12:g.65184825G>C | NCBI36 |
| NG_009288.1:g.11615G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.243G>C MANE Select | ENSP00000307188.9:p.Leu81= | |
| ENST00000362000.10:c.48G>C | ENSP00000354710.6:p.Leu16= | |
| ENST00000380839.9:c.243G>C | ENSP00000370219.4:p.Leu81= | |
| ENST00000395331.4:c.243G>C | ENSP00000378740.3:p.Leu81= | |
| ENST00000395332.8:c.243G>C | ENSP00000378741.3:p.Leu81= | |
| ENST00000671817.1:c.243G>C | ENSP00000500462.1:p.Leu81= | |
| ENST00000672498.1:c.243G>C | ENSP00000500227.1:p.Leu81= | |
| ENST00000672586.1:n.148G>C | ||
| ENST00000672676.1:n.413G>C | ||
| ENST00000673350.1:n.491G>C | ||
| ENST00000673518.1:c.243G>C | ENSP00000499889.1:p.Leu81= | |
| ENST00000673594.1:n.92G>C | ||
| ENST00000304874.13:c.243G>C | ENSP00000307188.9:p.Leu81= | |
| ENST00000362000.9:c.48G>C | ENSP00000354710.5:p.Leu16= | |
| ENST00000380839.8:c.243G>C | ENSP00000370219.4:p.Leu81= | |
| ENST00000395331.3:c.243G>C | ENSP00000378740.3:p.Leu81= | |
| ENST00000395332.7:c.243G>C | ENSP00000378741.3:p.Leu81= | |
| ENST00000487982.5:n.309G>C | ||
| ENST00000496336.1:n.484G>C | ||
| NM_000048.3:c.243G>C | NP_000039.2:p.Leu81= | |
| NM_001024943.1:c.243G>C | NP_001020114.1:p.Leu81= | |
| NM_001024944.1:c.243G>C | NP_001020115.1:p.Leu81= | |
| NM_001024946.1:c.243G>C | NP_001020117.1:p.Leu81= | |
| NM_000048.4:c.243G>C MANE Select | NP_000039.2:p.Leu81= | |
| NM_001024943.2:c.243G>C | NP_001020114.1:p.Leu81= | |
| NM_001024944.2:c.243G>C | NP_001020115.1:p.Leu81= | |
| NM_001024946.2:c.243G>C | NP_001020117.1:p.Leu81= |