Linked Data
ClinVar Variation Id:
1080046
ClinVar RCV Id:
RCV001395549
dbSNP Id:
rs760929997
ExAC:
1:100671798 A / G
gnomAD v2:
1-100671798-A-G
gnomAD v4:
1-100206242-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100206242A>G , CM000663.2:g.100206242A>G | GRCh38 |
| NC_000001.10:g.100671798A>G , CM000663.1:g.100671798A>G | GRCh37 |
| NC_000001.9:g.100444386A>G | NCBI36 |
| NG_011852.2:g.48612T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1395T>C | ENSP00000505544.1:p.Leu465= | |
| ENST00000681780.1:c.726T>C | ENSP00000505780.1:p.Leu242= | |
| ENST00000370132.8:c.1269T>C MANE Select | ENSP00000359151.3:p.Leu423= | |
| NM_001918.3:c.1269T>C | NP_001909.3:p.Leu423= | |
| XM_005270545.2:c.726T>C | XP_005270602.1:p.Leu242= | |
| XM_005270546.2:c.726T>C | XP_005270603.1:p.Leu242= | |
| XM_005270545.4:c.726T>C | XP_005270602.1:p.Leu242= | |
| XM_017000468.2:c.726T>C | XP_016855957.1:p.Leu242= | |
| XM_017000469.2:c.726T>C | XP_016855958.1:p.Leu242= | |
| NM_001918.4:c.1269T>C | NP_001909.3:p.Leu423= | |
| NM_001918.5:c.1269T>C MANE Select | NP_001909.4:p.Leu423= | |
| NM_001399969.1:c.726T>C | NP_001386898.1:p.Leu242= | |
| NM_001399972.1:c.726T>C | NP_001386901.1:p.Leu242= | |
| NR_174363.1:n.1101T>C | ||
| NR_174364.1:n.1283T>C | ||
| NR_174365.1:n.1066T>C | ||
| NR_174366.1:n.1368T>C |