Linked Data
ClinVar Variation Id:
238991
ClinVar RCV Id:
RCV000226362
dbSNP Id:
rs878854459
gnomAD v4:
5-13766091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13766091A>G , CM000667.2:g.13766091A>G | GRCh38 |
| NC_000005.9:g.13766200A>G , CM000667.1:g.13766200A>G | GRCh37 |
| NC_000005.8:g.13819200A>G | NCBI36 |
| NG_013081.1:g.183390T>C | |
| NG_013081.2:g.183390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9986T>C MANE Select | ENSP00000265104.4:p.Leu3329Pro | |
| ENST00000681290.1:c.9941T>C | ENSP00000505288.1:p.Leu3314Pro | |
| ENST00000265104.4:c.9986T>C | ENSP00000265104.4:p.Leu3329Pro | |
| ENST00000504001.3:n.609+2869T>C | ||
| NM_001369.2:c.9986T>C | NP_001360.1:p.Leu3329Pro | |
| XM_005248262.2:c.9941T>C | XP_005248319.1:p.Leu3314Pro | |
| XM_005248262.3:c.10094T>C | XP_005248319.2:p.Leu3365Pro | |
| XM_017009177.1:c.10094T>C | XP_016864666.1:p.Leu3365Pro | |
| XM_017009178.1:c.8999T>C | XP_016864667.1:p.Leu3000Pro | |
| XM_017009179.2:c.8999T>C | XP_016864668.1:p.Leu3000Pro | |
| XM_017009180.1:c.10094T>C | XP_016864669.1:p.Leu3365Pro | |
| XM_017009181.1:c.10094T>C | XP_016864670.1:p.Leu3365Pro | |
| XM_017009182.1:c.10094T>C | XP_016864671.1:p.Leu3365Pro | |
| XM_017009185.1:c.5183T>C | XP_016864674.1:p.Leu1728Pro | |
| XM_017009186.1:c.4736T>C | XP_016864675.1:p.Leu1579Pro | |
| XM_017009188.1:c.4073T>C | XP_016864677.1:p.Leu1358Pro | |
| XM_024454388.1:c.8999T>C | XP_024310156.1:p.Leu3000Pro | |
| XM_024454389.1:c.8588T>C | XP_024310157.1:p.Leu2863Pro | |
| NM_001369.3:c.9986T>C MANE Select | NP_001360.1:p.Leu3329Pro |