Linked Data
ClinVar Variation Id:
2554188
ClinVar RCV Id:
RCV003304122
dbSNP Id:
rs752519483
gnomAD v4:
1-99921591-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99921591C>G , CM000663.2:g.99921591C>G | GRCh38 |
| NC_000001.10:g.100387147C>G , CM000663.1:g.100387147C>G | GRCh37 |
| NC_000001.9:g.100159735C>G | NCBI36 |
| NG_012865.1:g.76508C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4539C>G MANE Select | ENSP00000355106.3:p.Phe1513Leu | |
| ENST00000637337.1:n.4750C>G | ||
| ENST00000294724.8:c.4539C>G | ENSP00000294724.4:p.Phe1513Leu | |
| ENST00000361302.7:c.4491C>G | ENSP00000354971.3:p.Phe1497Leu | |
| ENST00000361522.4:c.4488C>G | ENSP00000354635.4:p.Phe1496Leu | |
| ENST00000361915.7:c.4539C>G | ENSP00000355106.3:p.Phe1513Leu | |
| ENST00000370161.6:c.4491C>G | ENSP00000359180.2:p.Phe1497Leu | |
| ENST00000370163.7:c.4539C>G | ENSP00000359182.3:p.Phe1513Leu | |
| ENST00000370165.7:c.4539C>G | ENSP00000359184.3:p.Phe1513Leu | |
| NM_000028.2:c.4539C>G | NP_000019.2:p.Phe1513Leu | |
| NM_000642.2:c.4539C>G | NP_000633.2:p.Phe1513Leu | |
| NM_000643.2:c.4539C>G | NP_000634.2:p.Phe1513Leu | |
| NM_000644.2:c.4539C>G | NP_000635.2:p.Phe1513Leu | |
| NM_000645.2:c.4488C>G | NP_000636.2:p.Phe1496Leu | |
| NM_000646.2:c.4491C>G | NP_000637.2:p.Phe1497Leu | |
| XM_005270557.1:c.4539C>G | XP_005270614.1:p.Phe1513Leu | |
| XR_947626.1:n.1317+2647G>C | ||
| XR_947627.1:n.1206+2647G>C | ||
| XR_947628.1:n.1311+2647G>C | ||
| XR_947630.1:n.1249+2647G>C | ||
| XR_947632.1:n.1135+2647G>C | ||
| XR_947633.1:n.1246+2647G>C | ||
| XR_947634.1:n.660+2647G>C | ||
| XR_947635.1:n.728+2647G>C | ||
| XM_005270557.2:c.4539C>G | XP_005270614.1:p.Phe1513Leu | |
| XM_017000501.2:c.2799C>G | XP_016855990.1:p.Phe933Leu | |
| NM_000642.3:c.4539C>G MANE Select | NP_000633.2:p.Phe1513Leu |