Linked Data
ClinVar Variation Id:
64410
ClinVar RCV Id:
RCV000054597
dbSNP Id:
rs387907468
ExAC:
15:48500302 C / T
gnomAD v2:
15-48500302-C-T
gnomAD v4:
15-48208105-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48208105C>T , CM000677.2:g.48208105C>T | GRCh38 |
| NC_000015.9:g.48500302C>T , CM000677.1:g.48500302C>T | GRCh37 |
| NC_000015.8:g.46287594C>T | NCBI36 |
| NG_021301.1:g.6805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.386C>T | ENSP00000508901.1:p.Pro129Leu | |
| ENST00000380993.8:c.386C>T MANE Select | ENSP00000370381.3:p.Pro129Leu | |
| ENST00000646012.1:c.386C>T | ENSP00000495813.1:p.Pro129Leu | |
| ENST00000647232.1:c.386C>T | ENSP00000493875.1:p.Pro129Leu | |
| ENST00000647546.1:c.386C>T | ENSP00000495332.1:p.Pro129Leu | |
| ENST00000330289.10:c.386C>T | ENSP00000331550.6:p.Pro129Leu | |
| ENST00000380993.7:c.386C>T | ENSP00000370381.3:p.Pro129Leu | |
| ENST00000396577.7:c.386C>T | ENSP00000379822.3:p.Pro129Leu | |
| ENST00000558405.5:c.386C>T | ENSP00000453409.1:p.Pro129Leu | |
| ENST00000559641.5:c.-141-12529C>T | ENSP00000453230.1:n.-141-12529C>T | |
| ENST00000561031.1:c.386C>T | ENSP00000454178.1:p.Pro129Leu | |
| ENST00000561127.5:c.-133-12529C>T | ENSP00000453602.2:n.-133-12529C>T | |
| NM_000338.2:c.386C>T | NP_000329.2:p.Pro129Leu | |
| NM_001184832.1:c.386C>T | NP_001171761.1:p.Pro129Leu | |
| XM_005254605.1:c.386C>T | XP_005254662.1:p.Pro129Leu | |
| XM_005254606.1:c.386C>T | XP_005254663.1:p.Pro129Leu | |
| XM_006720656.1:c.386C>T | XP_006720719.1:p.Pro129Leu | |
| XR_931896.1:n.602C>T | ||
| XM_005254606.2:c.386C>T | XP_005254663.1:p.Pro129Leu | |
| NM_000338.3:c.386C>T MANE Select | NP_000329.2:p.Pro129Leu | |
| NM_001184832.2:c.386C>T | NP_001171761.1:p.Pro129Leu | |
| NM_001384136.1:c.386C>T | NP_001371065.1:p.Pro129Leu |