Linked Data
ClinVar Variation Id:
1389913
ClinVar RCV Id:
RCV001898133
dbSNP Id:
rs1361478485
gnomAD v2:
5-174151745-C-T
gnomAD v3:
5-174724742-C-T
gnomAD v4:
5-174724742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724742C>T , CM000667.2:g.174724742C>T | GRCh38 |
| NC_000005.9:g.174151745C>T , CM000667.1:g.174151745C>T | GRCh37 |
| NC_000005.8:g.174084351C>T | NCBI36 |
| NG_008124.1:g.5171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.83C>T MANE Select | ENSP00000239243.5:p.Pro28Leu | |
| ENST00000239243.6:c.83C>T | ENSP00000239243.5:p.Pro28Leu | |
| ENST00000507785.2:c.83C>T | ENSP00000427425.1:p.Pro28Leu | |
| NM_002449.4:c.83C>T | NP_002440.2:p.Pro28Leu | |
| NM_001363626.1:c.83C>T | NP_001350555.1:p.Pro28Leu | |
| NM_002449.5:c.83C>T MANE Select | NP_002440.2:p.Pro28Leu | |
| NM_001363626.2:c.83C>T | NP_001350555.1:p.Pro28Leu |