Linked Data
ClinVar Variation Id:
526593
dbSNP Id:
rs749445010
ExAC:
1:100378014 T / G
gnomAD v2:
1-100378014-T-G
gnomAD v3:
1-99912458-T-G
gnomAD v4:
1-99912458-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99912458T>G , CM000663.2:g.99912458T>G | GRCh38 |
| NC_000001.10:g.100378014T>G , CM000663.1:g.100378014T>G | GRCh37 |
| NC_000001.9:g.100150602T>G | NCBI36 |
| NG_012865.1:g.67375T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.3890T>G MANE Select | ENSP00000355106.3:p.Leu1297Trp | |
| ENST00000637337.1:n.4101T>G | ||
| ENST00000294724.8:c.3890T>G | ENSP00000294724.4:p.Leu1297Trp | |
| ENST00000361302.7:c.3842T>G | ENSP00000354971.3:p.Leu1281Trp | |
| ENST00000361522.4:c.3839T>G | ENSP00000354635.4:p.Leu1280Trp | |
| ENST00000361915.7:c.3890T>G | ENSP00000355106.3:p.Leu1297Trp | |
| ENST00000370161.6:c.3842T>G | ENSP00000359180.2:p.Leu1281Trp | |
| ENST00000370163.7:c.3890T>G | ENSP00000359182.3:p.Leu1297Trp | |
| ENST00000370165.7:c.3890T>G | ENSP00000359184.3:p.Leu1297Trp | |
| NM_000028.2:c.3890T>G | NP_000019.2:p.Leu1297Trp | |
| NM_000642.2:c.3890T>G | NP_000633.2:p.Leu1297Trp | |
| NM_000643.2:c.3890T>G | NP_000634.2:p.Leu1297Trp | |
| NM_000644.2:c.3890T>G | NP_000635.2:p.Leu1297Trp | |
| NM_000645.2:c.3839T>G | NP_000636.2:p.Leu1280Trp | |
| NM_000646.2:c.3842T>G | NP_000637.2:p.Leu1281Trp | |
| XM_005270557.1:c.3890T>G | XP_005270614.1:p.Leu1297Trp | |
| XM_005270557.2:c.3890T>G | XP_005270614.1:p.Leu1297Trp | |
| XM_017000501.2:c.2150T>G | XP_016855990.1:p.Leu717Trp | |
| NM_000642.3:c.3890T>G MANE Select | NP_000633.2:p.Leu1297Trp |