Linked Data
ClinVar Variation Id:
954500
ClinVar RCV Id:
RCV001226961
dbSNP Id:
rs972017329
gnomAD v2:
17-6328883-G-A
gnomAD v3:
17-6425563-G-A
gnomAD v4:
17-6425563-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425563G>A , CM000679.2:g.6425563G>A | GRCh38 |
| NC_000017.10:g.6328883G>A , CM000679.1:g.6328883G>A | GRCh37 |
| NC_000017.9:g.6269607G>A | NCBI36 |
| NG_008474.1:g.14637C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1052C>T MANE Select | ENSP00000370521.3:p.Pro351Leu | |
| ENST00000250087.9:c.863C>T | ENSP00000250087.5:p.Pro288Leu | |
| ENST00000381128.2:c.*924C>T | ENSP00000370520.2:n.*924C>T | |
| ENST00000381129.7:c.1052C>T | ENSP00000370521.3:p.Pro351Leu | |
| ENST00000570466.5:c.986C>T | ENSP00000461287.1:p.Pro329Leu | |
| ENST00000570584.5:c.251+8356C>T | ||
| ENST00000574506.5:c.1016C>T | ENSP00000458456.1:p.Pro339Leu | |
| ENST00000575265.5:c.*1023C>T | ENSP00000459673.1:n.*1023C>T | |
| ENST00000576307.5:c.872C>T | ENSP00000459522.1:p.Pro291Leu | |
| ENST00000576776.5:c.980C>T | ENSP00000460827.1:p.Pro327Leu | |
| ENST00000621374.4:c.*70C>T | ENSP00000481337.1:n.*70C>T | |
| NM_001033054.2:c.863C>T | NP_001028226.1:p.Pro288Leu | |
| NM_001033055.2:c.872C>T | NP_001028227.1:p.Pro291Leu | |
| NM_001285399.2:c.1016C>T | NP_001272328.1:p.Pro339Leu | |
| NM_001285400.2:c.986C>T | NP_001272329.1:p.Pro329Leu | |
| NM_001285401.2:c.980C>T | NP_001272330.1:p.Pro327Leu | |
| NM_001285402.1:c.935C>T | NP_001272331.1:p.Pro312Leu | |
| NM_014336.4:c.1052C>T | NP_055151.3:p.Pro351Leu | |
| NM_001033054.3:c.863C>T | NP_001028226.1:p.Pro288Leu | |
| NM_001033055.3:c.872C>T | NP_001028227.1:p.Pro291Leu | |
| NM_001285399.3:c.1016C>T | NP_001272328.1:p.Pro339Leu | |
| NM_001285400.3:c.986C>T | NP_001272329.1:p.Pro329Leu | |
| NM_001285401.3:c.980C>T | NP_001272330.1:p.Pro327Leu | |
| NM_001285402.2:c.935C>T | NP_001272331.1:p.Pro312Leu | |
| NM_001285403.3:c.*1023C>T | NP_001272332.1:n.*1023C>T | |
| NM_014336.5:c.1052C>T MANE Select | NP_055151.3:p.Pro351Leu | |
| NM_001285403.4:c.*1023C>T | NP_001272332.1:n.*1023C>T |