Linked Data
ClinVar Variation Id:
130646
dbSNP Id:
rs6493068
ExAC:
15:43170793 A / G
gnomAD v2:
15-43170793-A-G
gnomAD v3:
15-42878595-A-G
gnomAD v4:
15-42878595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42878595A>G , CM000677.2:g.42878595A>G | GRCh38 |
| NC_000015.9:g.43170793A>G , CM000677.1:g.43170793A>G | GRCh37 |
| NC_000015.8:g.40958085A>G | NCBI36 |
| NG_012664.1:g.47215T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267890.11:c.23T>C MANE Select | ENSP00000267890.6:p.Leu8Pro | |
| ENST00000267890.10:c.23T>C | ENSP00000267890.6:p.Leu8Pro | |
| ENST00000562880.5:c.23T>C | ENSP00000457385.1:p.Leu8Pro | |
| ENST00000564431.5:c.23T>C | ENSP00000455574.1:p.Leu8Pro | |
| ENST00000566931.1:c.23T>C | ENSP00000454605.1:p.Leu8Pro | |
| ENST00000567274.5:c.23T>C | ENSP00000457489.1:p.Leu8Pro | |
| ENST00000567485.1:n.120T>C | ||
| ENST00000567840.5:c.23T>C | ENSP00000455734.1:p.Leu8Pro | |
| ENST00000622375.4:c.-37T>C | ENSP00000479984.1:n.-37T>C | |
| NM_173500.3:c.23T>C | NP_775771.3:p.Leu8Pro | |
| XM_005254171.3:c.189T>C | XP_005254228.1:p.Ala63= | |
| XM_005254173.3:c.-37T>C | XP_005254230.1:n.-37T>C | |
| XM_006720402.2:c.156T>C | XP_006720465.1:p.Ala52= | |
| XM_011521268.1:c.189T>C | XP_011519570.1:p.Ala63= | |
| XM_005254171.5:c.189T>C | XP_005254228.1:p.Ala63= | |
| XM_005254173.5:c.-37T>C | XP_005254230.1:n.-37T>C | |
| XM_006720402.4:c.156T>C | XP_006720465.1:p.Ala52= | |
| XM_006720403.4:c.-358T>C | XP_006720466.1:n.-358T>C | |
| XM_024449849.1:c.23T>C | XP_024305617.1:p.Leu8Pro | |
| XM_024449850.1:c.23T>C | XP_024305618.1:p.Leu8Pro | |
| XM_024449851.1:c.-1351T>C | XP_024305619.1:n.-1351T>C | |
| NM_173500.4:c.23T>C MANE Select | NP_775771.3:p.Leu8Pro |