Linked Data
ClinVar Variation Id:
2022001
ClinVar RCV Id:
RCV002847443
dbSNP Id:
rs1372417159
gnomAD v2:
18-59742045-G-C
gnomAD v4:
18-62074812-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62074812G>C , CM000680.2:g.62074812G>C | GRCh38 |
| NC_000018.9:g.59742045G>C , CM000680.1:g.59742045G>C | GRCh37 |
| NC_000018.8:g.57893025G>C | NCBI36 |
| NG_033144.1:g.117245C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2586C>G | ENSP00000350263.4:p.Leu862= | |
| ENST00000638167.1:c.2184C>G | ENSP00000491549.1:p.Leu728= | |
| ENST00000638183.1:c.2586C>G | ENSP00000491013.1:p.Leu862= | |
| ENST00000638369.1:c.2403C>G | ENSP00000491811.1:p.Leu801= | |
| ENST00000638424.1:c.*554C>G | ENSP00000491963.1:n.*554C>G | |
| ENST00000638435.1:c.2355C>G | ENSP00000491850.1:p.Leu785= | |
| ENST00000638858.1:n.2565C>G | ||
| ENST00000638904.1:c.*266C>G | ENSP00000491318.1:n.*266C>G | |
| ENST00000638936.1:c.2586C>G | ENSP00000492592.1:p.Leu862= | |
| ENST00000638977.1:c.2526C>G | ENSP00000491010.1:p.Leu842= | |
| ENST00000639174.1:c.2586C>G | ENSP00000492783.1:p.Leu862= | |
| ENST00000639342.1:c.2334C>G | ENSP00000491022.1:p.Leu778= | |
| ENST00000639372.1:c.563-2087C>G | ||
| ENST00000639491.1:n.1216C>G | ||
| ENST00000639600.1:c.2056C>G | ||
| ENST00000639681.1:c.*1843C>G | ENSP00000491929.1:n.*1843C>G | |
| ENST00000639758.1:c.2526C>G | ENSP00000491475.1:p.Leu842= | |
| ENST00000639902.1:c.2586C>G | ENSP00000490965.1:p.Leu862= | |
| ENST00000639912.1:c.2526C>G | ENSP00000490970.1:p.Leu842= | |
| ENST00000640050.1:c.2586C>G | ENSP00000492051.1:p.Leu862= | |
| ENST00000640145.1:c.2586C>G | ENSP00000491525.1:p.Leu862= | |
| ENST00000640170.1:c.*1946C>G | ENSP00000491270.1:n.*1946C>G | |
| ENST00000640248.1:n.1089C>G | ||
| ENST00000640252.2:c.2586C>G MANE Select | ENSP00000492233.1:p.Leu862= | |
| ENST00000640268.1:c.*731C>G | ENSP00000491111.1:n.*731C>G | |
| ENST00000640540.1:c.2586C>G | ENSP00000491620.1:p.Leu862= | |
| ENST00000640593.1:c.*1544C>G | ENSP00000492017.1:n.*1544C>G | |
| ENST00000640682.1:c.1401C>G | ENSP00000491415.1:p.Leu467= | |
| ENST00000640704.1:n.370C>G | ||
| ENST00000640876.1:c.2586C>G | ENSP00000491628.1:p.Leu862= | |
| ENST00000357637.9:c.2586C>G | ENSP00000350263.4:p.Leu862= | |
| ENST00000400334.7:c.2586C>G | ENSP00000383188.2:p.Leu862= | |
| ENST00000587942.1:n.1408C>G | ||
| NM_012327.5:c.2586C>G | NP_036459.1:p.Leu862= | |
| NM_176787.4:c.2586C>G | NP_789744.1:p.Leu862= | |
| XM_011525889.1:c.2586C>G | XP_011524191.1:p.Leu862= | |
| XM_011525890.1:c.2586C>G | XP_011524192.1:p.Leu862= | |
| XM_011525891.1:c.2586C>G | XP_011524193.1:p.Leu862= | |
| XM_011525892.1:c.2586C>G | XP_011524194.1:p.Leu862= | |
| XM_011525893.1:c.2586C>G | XP_011524195.1:p.Leu862= | |
| XM_011525894.1:c.2586C>G | XP_011524196.1:p.Leu862= | |
| XM_011525895.1:c.2586C>G | XP_011524197.1:p.Leu862= | |
| XM_011525896.1:c.2586C>G | XP_011524198.1:p.Leu862= | |
| XM_011525897.1:c.2526C>G | XP_011524199.1:p.Leu842= | |
| XM_011525898.1:c.2586C>G | XP_011524200.1:p.Leu862= | |
| XM_017025685.1:c.2184C>G | XP_016881174.1:p.Leu728= | |
| XM_017025686.1:c.2184C>G | XP_016881175.1:p.Leu728= | |
| NM_176787.5:c.2586C>G MANE Select | NP_789744.1:p.Leu862= | |
| NM_012327.6:c.2586C>G | NP_036459.1:p.Leu862= |