Linked Data
dbSNP Id:
rs1238096554
gnomAD v2:
4-995840-C-T
gnomAD v3:
4-1002052-C-T
gnomAD v4:
4-1002052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002052C>T , CM000666.2:g.1002052C>T | GRCh38 |
| NC_000004.11:g.995840C>T , CM000666.1:g.995840C>T | GRCh37 |
| NC_000004.10:g.985840C>T | NCBI36 |
| NG_008103.1:g.20056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.863C>T | ENSP00000247933.4:p.Pro288Leu | |
| ENST00000514224.2:c.863C>T MANE Select | ENSP00000425081.2:p.Pro288Leu | |
| ENST00000652070.1:n.919C>T | ||
| ENST00000247933.8:c.863C>T | ENSP00000247933.4:p.Pro288Leu | |
| ENST00000514192.5:c.680C>T | ENSP00000423685.1:p.Pro227Leu | |
| ENST00000514224.1:c.467C>T | ENSP00000425081.1:p.Pro156Leu | |
| ENST00000514698.5:n.863C>T | ||
| NM_000203.4:c.863C>T | NP_000194.2:p.Pro288Leu | |
| NR_110313.1:n.951C>T | ||
| XM_006713882.2:c.467C>T | XP_006713945.1:p.Pro156Leu | |
| XM_011513459.1:c.822C>T | XP_011511761.1:p.Pro274= | |
| XM_011513460.1:c.722C>T | XP_011511762.1:p.Pro241Leu | |
| XM_011513461.1:c.656C>T | XP_011511763.1:p.Pro219Leu | |
| XM_011513462.1:c.575C>T | XP_011511764.1:p.Pro192Leu | |
| XM_011513463.1:c.575C>T | XP_011511765.1:p.Pro192Leu | |
| XR_924947.1:n.932C>T | ||
| NM_000203.5:c.863C>T MANE Select | NP_000194.2:p.Pro288Leu | |
| NM_001363576.1:c.467C>T | NP_001350505.1:p.Pro156Leu | |
| XM_011513461.2:c.656C>T | XP_011511763.1:p.Pro219Leu | |
| XM_017008163.1:c.-98C>T | XP_016863652.1:n.-98C>T |