Linked Data
ClinVar Variation Id:
354133
ClinVar RCV Id:
RCV000311611
dbSNP Id:
rs140607282
ExAC:
5:74011351 G / C
gnomAD v2:
5-74011351-G-C
gnomAD v3:
5-74715526-G-C
gnomAD v4:
5-74715526-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715526G>C , CM000667.2:g.74715526G>C | GRCh38 |
| NC_000005.9:g.74011351G>C , CM000667.1:g.74011351G>C | GRCh37 |
| NC_000005.8:g.74047107G>C | NCBI36 |
| NG_009770.1:g.35383G>C | |
| NG_009770.2:g.80504G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.918G>C MANE Select | ENSP00000261416.7:p.Leu306= | |
| ENST00000261416.11:c.918G>C | ENSP00000261416.7:p.Leu306= | |
| ENST00000504459.5:n.115G>C | ||
| ENST00000511181.5:c.243G>C | ENSP00000426285.1:p.Leu81= | |
| NM_000521.3:c.918G>C | NP_000512.1:p.Leu306= | |
| NM_001292004.1:c.243G>C | NP_001278933.1:p.Leu81= | |
| NM_000521.4:c.918G>C MANE Select | NP_000512.2:p.Leu306= | |
| NM_001292004.2:c.243G>C | NP_001278933.1:p.Leu81= |