Linked Data
ClinVar Variation Id:
1418471
dbSNP Id:
rs750090767
ExAC:
3:122003644 T / C
gnomAD v2:
3-122003644-T-C
gnomAD v4:
3-122284797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284797T>C , CM000665.2:g.122284797T>C | GRCh38 |
| NC_000003.11:g.122003644T>C , CM000665.1:g.122003644T>C | GRCh37 |
| NC_000003.10:g.123486334T>C | NCBI36 |
| NG_009058.1:g.106115T>C | |
| NG_009058.2:g.106130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2612T>C | ENSP00000418685.2:p.Leu871Pro | |
| ENST00000498619.4:c.2873T>C | ENSP00000420194.1:p.Leu958Pro | |
| ENST00000638421.1:c.2843T>C | ENSP00000492190.1:p.Leu948Pro | |
| ENST00000639785.2:c.2843T>C MANE Select | ENSP00000491584.2:p.Leu948Pro | |
| ENST00000490131.5:c.2843T>C | ENSP00000418685.1:p.Leu948Pro | |
| ENST00000498619.2:c.2873T>C | ENSP00000420194.1:p.Leu958Pro | |
| NM_000388.3:c.2843T>C | NP_000379.2:p.Leu948Pro | |
| NM_001178065.1:c.2873T>C | NP_001171536.1:p.Leu958Pro | |
| XM_005247836.2:c.2843T>C | XP_005247893.1:p.Leu948Pro | |
| XM_005247837.2:c.2360T>C | XP_005247894.1:p.Leu787Pro | |
| XM_006713789.2:c.2843T>C | XP_006713852.1:p.Leu948Pro | |
| XM_011513237.1:c.2843T>C | XP_011511539.1:p.Leu948Pro | |
| XM_011513238.1:c.2843T>C | XP_011511540.1:p.Leu948Pro | |
| XM_011513239.1:c.2255T>C | XP_011511541.1:p.Leu752Pro | |
| XM_006713789.3:c.2843T>C | XP_006713852.1:p.Leu948Pro | |
| XM_017007324.1:c.2843T>C | XP_016862813.1:p.Leu948Pro | |
| XM_017007325.1:c.2843T>C | XP_016862814.1:p.Leu948Pro | |
| NM_000388.4:c.2843T>C MANE Select | NP_000379.3:p.Leu948Pro | |
| NM_001178065.2:c.2873T>C | NP_001171536.2:p.Leu958Pro |