Linked Data
ClinVar Variation Id:
222995
dbSNP Id:
rs869025584
gnomAD v2:
4-995530-T-C
gnomAD v3:
4-1001742-T-C
gnomAD v4:
4-1001742-T-C
PubMed:
PMID:20301341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001742T>C , CM000666.2:g.1001742T>C | GRCh38 |
| NC_000004.11:g.995530T>C , CM000666.1:g.995530T>C | GRCh37 |
| NC_000004.10:g.985530T>C | NCBI36 |
| NG_008103.1:g.19746T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.653T>C | ENSP00000247933.4:p.Leu218Pro | |
| ENST00000514224.2:c.653T>C MANE Select | ENSP00000425081.2:p.Leu218Pro | |
| ENST00000652070.1:n.709T>C | ||
| ENST00000247933.8:c.653T>C | ENSP00000247933.4:p.Leu218Pro | |
| ENST00000502910.5:c.512T>C | ENSP00000422952.1:p.Leu171Pro | |
| ENST00000509948.5:c.446T>C | ENSP00000424227.1:p.Leu149Pro | |
| ENST00000514192.5:c.470T>C | ENSP00000423685.1:p.Leu157Pro | |
| ENST00000514224.1:c.257T>C | ENSP00000425081.1:p.Leu86Pro | |
| ENST00000514698.5:n.553T>C | ||
| NM_000203.4:c.653T>C | NP_000194.2:p.Leu218Pro | |
| NR_110313.1:n.741T>C | ||
| XM_006713882.2:c.257T>C | XP_006713945.1:p.Leu86Pro | |
| XM_011513459.1:c.512T>C | XP_011511761.1:p.Leu171Pro | |
| XM_011513460.1:c.512T>C | XP_011511762.1:p.Leu171Pro | |
| XM_011513461.1:c.446T>C | XP_011511763.1:p.Leu149Pro | |
| XM_011513462.1:c.365T>C | XP_011511764.1:p.Leu122Pro | |
| XM_011513463.1:c.365T>C | XP_011511765.1:p.Leu122Pro | |
| XR_924947.1:n.722T>C | ||
| NM_000203.5:c.653T>C MANE Select | NP_000194.2:p.Leu218Pro | |
| NM_001363576.1:c.257T>C | NP_001350505.1:p.Leu86Pro | |
| XM_011513461.2:c.446T>C | XP_011511763.1:p.Leu149Pro | |
| XM_017008163.1:c.-308T>C | XP_016863652.1:n.-308T>C |