Linked Data
ClinVar Variation Id:
458586
ClinVar RCV Id:
RCV000557856
dbSNP Id:
rs1554183398
gnomAD v4:
6-51659498-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659498A>G , CM000668.2:g.51659498A>G | GRCh38 |
| NC_000006.11:g.51524296A>G , CM000668.1:g.51524296A>G | GRCh37 |
| NC_000006.10:g.51632255A>G | NCBI36 |
| NG_008753.1:g.433128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10628T>C MANE Select | ENSP00000360158.3:p.Leu3543Ser | |
| ENST00000371117.7:c.10628T>C | ENSP00000360158.3:p.Leu3543Ser | |
| NM_138694.3:c.10628T>C | NP_619639.3:p.Leu3543Ser | |
| XM_011514679.1:c.10628T>C | XP_011512981.1:p.Leu3543Ser | |
| XM_011514680.1:c.10628T>C | XP_011512982.1:p.Leu3543Ser | |
| XM_011514681.1:c.10499T>C | XP_011512983.1:p.Leu3500Ser | |
| XM_011514682.1:c.10490T>C | XP_011512984.1:p.Leu3497Ser | |
| XM_011514683.1:c.9986T>C | XP_011512985.1:p.Leu3329Ser | |
| XM_011514684.1:c.9917T>C | XP_011512986.1:p.Leu3306Ser | |
| XM_011514687.1:c.10157-10278T>C | XP_011512989.1:n.10157-10278T>C | |
| XM_011514690.1:c.4703T>C | XP_011512992.1:p.Leu1568Ser | |
| XM_011514691.1:c.4703T>C | XP_011512993.1:p.Leu1568Ser | |
| XR_926870.1:n.535+7125A>G | ||
| XR_926871.1:n.403+7125A>G | ||
| XR_926872.1:n.535+7125A>G | ||
| XM_011514680.3:c.10628T>C | XP_011512982.1:p.Leu3543Ser | |
| XM_011514682.3:c.10490T>C | XP_011512984.1:p.Leu3497Ser | |
| XM_011514683.3:c.9986T>C | XP_011512985.1:p.Leu3329Ser | |
| XM_011514684.3:c.9917T>C | XP_011512986.1:p.Leu3306Ser | |
| XM_011514690.3:c.4703T>C | XP_011512992.1:p.Leu1568Ser | |
| XM_011514691.3:c.4703T>C | XP_011512993.1:p.Leu1568Ser | |
| XM_017010944.2:c.10628T>C | XP_016866433.1:p.Leu3543Ser | |
| XM_017010945.2:c.10553T>C | XP_016866434.1:p.Leu3518Ser | |
| XM_017010946.2:c.10433T>C | XP_016866435.1:p.Leu3478Ser | |
| XM_017010947.2:c.10364T>C | XP_016866436.1:p.Leu3455Ser | |
| XM_017010948.2:c.9917T>C | XP_016866437.1:p.Leu3306Ser | |
| XM_017010949.2:c.8768T>C | XP_016866438.1:p.Leu2923Ser | |
| XR_001743469.1:n.10904T>C | ||
| XR_001744157.1:n.3145+7125A>G | ||
| XR_926870.2:n.3145+7125A>G | ||
| XR_926871.2:n.3013+7125A>G | ||
| XR_926872.2:n.3145+7125A>G | ||
| NM_138694.4:c.10628T>C MANE Select | NP_619639.3:p.Leu3543Ser |