Linked Data
ClinVar Variation Id:
2864000
ClinVar RCV Id:
RCV003763409
dbSNP Id:
rs45607832
gnomAD v4:
7-116771870-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771870G>T , CM000669.2:g.116771870G>T | GRCh38 |
| NC_000007.13:g.116411924G>T , CM000669.1:g.116411924G>T | GRCh37 |
| NC_000007.12:g.116199160G>T | NCBI36 |
| NG_008996.1:g.104466G>T , LRG_662:g.104466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*514G>T | ENSP00000410980.2:n.*514G>T | |
| ENST00000318493.11:c.2963G>T | ENSP00000317272.6:p.Arg988Leu | |
| ENST00000397752.8:c.2909G>T MANE Select | ENSP00000380860.3:p.Arg970Leu | |
| ENST00000318493.10:c.2963G>T | ENSP00000317272.6:p.Arg988Leu | |
| ENST00000397752.7:c.2909G>T | ENSP00000380860.3:p.Arg970Leu | |
| ENST00000454623.1:c.283+216G>T | ENSP00000398140.1:n.283+216G>T | |
| NM_000245.2:c.2909G>T | NP_000236.2:p.Arg970Leu | |
| NM_001127500.1:c.2963G>T , LRG_662t1:c.2963G>T | NP_001120972.1:p.Arg988Leu | |
| XM_006715990.2:c.1619G>T | XP_006716053.1:p.Arg540Leu | |
| XM_006715991.2:c.1619G>T | XP_006716054.1:p.Arg540Leu | |
| XM_011516223.1:c.2966G>T | XP_011514525.1:p.Arg989Leu | |
| NM_000245.3:c.2909G>T | NP_000236.2:p.Arg970Leu | |
| NM_001127500.2:c.2963G>T | NP_001120972.1:p.Arg988Leu | |
| NM_001324402.1:c.1619G>T | NP_001311331.1:p.Arg540Leu | |
| XR_001744772.1:n.3040G>T | ||
| NM_001127500.3:c.2963G>T | NP_001120972.1:p.Arg988Leu | |
| NM_000245.4:c.2909G>T MANE Select | NP_000236.2:p.Arg970Leu | |
| NM_001324402.2:c.1619G>T | NP_001311331.1:p.Arg540Leu |