Linked Data
ClinVar Variation Id:
265248
ClinVar RCV Id:
RCV000255329
RCV000814672
RCV001731468
RCV002479991
RCV003992253
RCV004542964
RCV002250607
dbSNP Id:
rs750046020
ExAC:
1:43804317 C / T
gnomAD v2:
1-43804317-C-T
gnomAD v3:
1-43338646-C-T
gnomAD v4:
1-43338646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338646C>T , CM000663.2:g.43338646C>T | GRCh38 |
| NC_000001.10:g.43804317C>T , CM000663.1:g.43804317C>T | GRCh37 |
| NC_000001.9:g.43576904C>T | NCBI36 |
| NG_007525.1:g.5843C>T , LRG_510:g.5843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.317C>T MANE Select | ENSP00000361548.3:p.Pro106Leu | |
| ENST00000413998.7:c.296C>T | ENSP00000414004.3:p.Pro99Leu | |
| ENST00000638732.1:n.317C>T | ||
| ENST00000372470.7:c.317C>T | ENSP00000361548.3:p.Pro106Leu | |
| ENST00000413998.6:c.317C>T | ENSP00000414004.2:p.Pro106Leu | |
| ENST00000612993.1:c.317C>T | ENSP00000480273.1:p.Pro106Leu | |
| NM_005373.2:c.317C>T , LRG_510t1:c.317C>T | NP_005364.1:p.Pro106Leu | |
| XM_011541478.1:c.296C>T | XP_011539780.1:p.Pro99Leu | |
| XM_017001320.1:c.488C>T | XP_016856809.1:p.Pro163Leu | |
| NM_005373.3:c.317C>T MANE Select | NP_005364.1:p.Pro106Leu |