Linked Data
ClinVar Variation Id:
1043734
ClinVar RCV Id:
RCV001347884
dbSNP Id:
rs1706964965
COSMIC:
COSM3567429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.148458808C>T , CM000664.2:g.148458808C>T | GRCh38 |
| NC_000002.11:g.149216377C>T , CM000664.1:g.149216377C>T | GRCh37 |
| NC_000002.10:g.148932847C>T | NCBI36 |
| NG_017003.1:g.442798C>T | |
| NG_017003.2:g.442798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637159.1:c.50C>T | ENSP00000490140.1:p.Pro17Leu | |
| ENST00000638043.2:c.50C>T | ENSP00000490728.2:p.Pro17Leu | |
| ENST00000642680.2:c.50C>T MANE Select | ENSP00000493871.2:p.Pro17Leu | |
| ENST00000404807.5:c.50C>T | ENSP00000384672.1:p.Pro17Leu | |
| ENST00000407073.5:c.50C>T | ENSP00000386049.1:p.Pro17Leu | |
| ENST00000627651.2:c.50C>T | ENSP00000486370.1:p.Pro17Leu | |
| ENST00000629878.2:c.50C>T | ENSP00000487089.1:p.Pro17Leu | |
| NM_018328.4:c.50C>T | NP_060798.2:p.Pro17Leu | |
| XM_005263711.2:c.50C>T | XP_005263768.1:p.Pro17Leu | |
| XM_011511470.1:c.50C>T | XP_011509772.1:p.Pro17Leu | |
| XM_011511471.1:c.50C>T | XP_011509773.1:p.Pro17Leu | |
| XM_011511472.1:c.50C>T | XP_011509774.1:p.Pro17Leu | |
| XM_011511473.1:c.50C>T | XP_011509775.1:p.Pro17Leu | |
| XM_011511474.1:c.50C>T | XP_011509776.1:p.Pro17Leu | |
| XM_011511475.1:c.50C>T | XP_011509777.1:p.Pro17Leu | |
| XM_011511476.1:c.50C>T | XP_011509778.1:p.Pro17Leu | |
| XR_922967.1:n.1279C>T | ||
| XM_011511470.2:c.50C>T | XP_011509772.1:p.Pro17Leu | |
| XM_011511472.2:c.50C>T | XP_011509774.1:p.Pro17Leu | |
| XM_024452987.1:c.50C>T | XP_024308755.1:p.Pro17Leu | |
| XM_024452988.1:c.50C>T | XP_024308756.1:p.Pro17Leu | |
| XM_024452989.1:c.50C>T | XP_024308757.1:p.Pro17Leu | |
| XM_024452990.1:c.50C>T | XP_024308758.1:p.Pro17Leu | |
| XR_002959318.1:n.362C>T | ||
| XR_002959319.1:n.362C>T | ||
| NM_001378120.1:c.50C>T MANE Select | NP_001365049.1:p.Pro17Leu | |
| NM_018328.5:c.50C>T | NP_060798.2:p.Pro17Leu |