Linked Data
ClinVar Variation Id:
211220
dbSNP Id:
rs797045635
gnomAD v3:
11-17387028-A-G
gnomAD v4:
11-17387028-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387028A>G , CM000673.2:g.17387028A>G | GRCh38 |
| NC_000011.9:g.17408575A>G , CM000673.1:g.17408575A>G | GRCh37 |
| NC_000011.8:g.17365151A>G | NCBI36 |
| NG_012446.1:g.6632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.803T>C | ENSP00000508090.1:p.Leu268Pro | |
| ENST00000682764.1:c.803T>C | ENSP00000506780.1:p.Leu268Pro | |
| ENST00000339994.5:c.1064T>C MANE Select | ENSP00000345708.4:p.Leu355Pro | |
| ENST00000339994.4:c.1064T>C | ENSP00000345708.4:p.Leu355Pro | |
| ENST00000528731.1:c.803T>C | ENSP00000434755.1:p.Leu268Pro | |
| NM_000525.3:c.1064T>C | NP_000516.3:p.Leu355Pro | |
| NM_001166290.1:c.803T>C | NP_001159762.1:p.Leu268Pro | |
| XM_006718226.2:c.803T>C | XP_006718289.1:p.Leu268Pro | |
| XR_930867.1:n.1222T>C | ||
| XM_006718226.3:c.803T>C | XP_006718289.1:p.Leu268Pro | |
| XM_017017680.1:c.803T>C | XP_016873169.1:p.Leu268Pro | |
| NM_001166290.2:c.803T>C | NP_001159762.1:p.Leu268Pro | |
| NM_001377296.1:c.803T>C | NP_001364225.1:p.Leu268Pro | |
| NM_001377297.1:c.803T>C | NP_001364226.1:p.Leu268Pro | |
| NM_000525.4:c.1064T>C MANE Select | NP_000516.3:p.Leu355Pro |