Linked Data
ClinVar Variation Id:
521764
ClinVar RCV Id:
RCV000622978
dbSNP Id:
rs1553153672
gnomAD v4:
1-8355557-G-A
COSMIC:
COSM6224532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8355557G>A , CM000663.2:g.8355557G>A | GRCh38 |
| NC_000001.10:g.8415617G>A , CM000663.1:g.8415617G>A | GRCh37 |
| NC_000001.9:g.8338204G>A | NCBI36 |
| NG_047035.1:g.467135C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465125.2:c.2867C>T | ENSP00000515651.1:p.Pro956Leu | |
| ENST00000400908.7:c.4529C>T MANE Select | ENSP00000383700.2:p.Pro1510Leu | |
| ENST00000337907.7:c.4529C>T | ENSP00000338629.3:p.Pro1510Leu | |
| ENST00000377464.5:c.3725C>T | ENSP00000366684.1:p.Pro1242Leu | |
| ENST00000400907.6:c.1583C>T | ENSP00000383699.2:p.Pro528Leu | |
| ENST00000400908.6:c.4529C>T | ENSP00000383700.2:p.Pro1510Leu | |
| ENST00000476556.5:c.2867C>T | ENSP00000422246.1:p.Pro956Leu | |
| ENST00000505225.1:c.497C>T | ENSP00000423451.1:p.Pro166Leu | |
| NM_001042681.1:c.4529C>T | NP_001036146.1:p.Pro1510Leu | |
| NM_001042682.1:c.2867C>T | NP_001036147.1:p.Pro956Leu | |
| NM_012102.3:c.4529C>T | NP_036234.3:p.Pro1510Leu | |
| XM_005263464.1:c.4529C>T | XP_005263521.1:p.Pro1510Leu | |
| XM_005263466.1:c.3725C>T | XP_005263523.1:p.Pro1242Leu | |
| XM_006710653.1:c.4529C>T | XP_006710716.1:p.Pro1510Leu | |
| XM_011541510.1:c.4403C>T | XP_011539812.1:p.Pro1468Leu | |
| XM_005263464.2:c.4529C>T | XP_005263521.1:p.Pro1510Leu | |
| XM_011541510.2:c.4403C>T | XP_011539812.1:p.Pro1468Leu | |
| XM_017001358.1:c.4529C>T | XP_016856847.1:p.Pro1510Leu | |
| XM_017001359.1:c.4529C>T | XP_016856848.1:p.Pro1510Leu | |
| NM_001042681.2:c.4529C>T MANE Select | NP_001036146.1:p.Pro1510Leu | |
| NM_001042682.2:c.2867C>T | NP_001036147.1:p.Pro956Leu | |
| NM_012102.4:c.4529C>T | NP_036234.3:p.Pro1510Leu |