Linked Data
ClinVar Variation Id:
454724
dbSNP Id:
rs751746139
ExAC:
5:13766165 G / C
gnomAD v2:
5-13766165-G-C
gnomAD v3:
5-13766056-G-C
gnomAD v4:
5-13766056-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13766056G>C , CM000667.2:g.13766056G>C | GRCh38 |
| NC_000005.9:g.13766165G>C , CM000667.1:g.13766165G>C | GRCh37 |
| NC_000005.8:g.13819165G>C | NCBI36 |
| NG_013081.1:g.183425C>G | |
| NG_013081.2:g.183425C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.10021C>G MANE Select | ENSP00000265104.4:p.Leu3341Val | |
| ENST00000681290.1:c.9976C>G | ENSP00000505288.1:p.Leu3326Val | |
| ENST00000265104.4:c.10021C>G | ENSP00000265104.4:p.Leu3341Val | |
| ENST00000504001.3:n.609+2904C>G | ||
| NM_001369.2:c.10021C>G | NP_001360.1:p.Leu3341Val | |
| XM_005248262.2:c.9976C>G | XP_005248319.1:p.Leu3326Val | |
| XM_005248262.3:c.10129C>G | XP_005248319.2:p.Leu3377Val | |
| XM_017009177.1:c.10129C>G | XP_016864666.1:p.Leu3377Val | |
| XM_017009178.1:c.9034C>G | XP_016864667.1:p.Leu3012Val | |
| XM_017009179.2:c.9034C>G | XP_016864668.1:p.Leu3012Val | |
| XM_017009180.1:c.10129C>G | XP_016864669.1:p.Leu3377Val | |
| XM_017009181.1:c.10129C>G | XP_016864670.1:p.Leu3377Val | |
| XM_017009182.1:c.10129C>G | XP_016864671.1:p.Leu3377Val | |
| XM_017009185.1:c.5218C>G | XP_016864674.1:p.Leu1740Val | |
| XM_017009186.1:c.4771C>G | XP_016864675.1:p.Leu1591Val | |
| XM_017009188.1:c.4108C>G | XP_016864677.1:p.Leu1370Val | |
| XM_024454388.1:c.9034C>G | XP_024310156.1:p.Leu3012Val | |
| XM_024454389.1:c.8623C>G | XP_024310157.1:p.Leu2875Val | |
| NM_001369.3:c.10021C>G MANE Select | NP_001360.1:p.Leu3341Val |