Linked Data
ClinVar Variation Id:
357965
ClinVar RCV Id:
RCV000277919
RCV000370195
RCV000777728
RCV002411250
RCV000402482
RCV000521787
RCV001403630
dbSNP Id:
rs147484870
ExAC:
6:7585378 T / C
gnomAD v2:
6-7585378-T-C
gnomAD v3:
6-7585145-T-C
gnomAD v4:
6-7585145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585145T>C , CM000668.2:g.7585145T>C | GRCh38 |
| NC_000006.11:g.7585378T>C , CM000668.1:g.7585378T>C | GRCh37 |
| NC_000006.10:g.7530377T>C | NCBI36 |
| NG_008803.1:g.48509T>C , LRG_423:g.48509T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6554T>C | ENSP00000518230.1:p.Leu2185Pro | |
| ENST00000379802.8:c.7883T>C MANE Select | ENSP00000369129.3:p.Leu2628Pro | |
| ENST00000379802.7:c.7883T>C | ENSP00000369129.3:p.Leu2628Pro | |
| ENST00000418664.2:c.6086T>C | ENSP00000396591.2:p.Leu2029Pro | |
| NM_001008844.1:c.6086T>C | NP_001008844.1:p.Leu2029Pro | |
| NM_004415.2:c.7883T>C , LRG_423t1:c.7883T>C | NP_004406.2:p.Leu2628Pro | |
| XM_011514323.1:c.6554T>C | XP_011512625.1:p.Leu2185Pro | |
| NM_001008844.2:c.6086T>C | NP_001008844.1:p.Leu2029Pro | |
| NM_001319034.1:c.6554T>C | NP_001305963.1:p.Leu2185Pro | |
| NM_004415.3:c.7883T>C | NP_004406.2:p.Leu2628Pro | |
| NM_004415.4:c.7883T>C MANE Select | NP_004406.2:p.Leu2628Pro | |
| NM_001008844.3:c.6086T>C | NP_001008844.1:p.Leu2029Pro | |
| NM_001319034.2:c.6554T>C | NP_001305963.1:p.Leu2185Pro |