Linked Data
ClinVar Variation Id:
775278
dbSNP Id:
rs62640044
ExAC:
9:129265500 C / T
gnomAD v2:
9-129265500-C-T
gnomAD v3:
9-126503221-C-T
gnomAD v4:
9-126503221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126503221C>T , CM000671.2:g.126503221C>T | GRCh38 |
| NC_000009.11:g.129265500C>T , CM000671.1:g.129265500C>T | GRCh37 |
| NC_000009.10:g.128305321C>T | NCBI36 |
| NG_029787.1:g.181378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361171.8:c.918C>T MANE Select | ENSP00000354772.3:p.Leu306= | |
| ENST00000361171.7:c.918C>T | ENSP00000354772.3:p.Leu306= | |
| ENST00000485886.1:n.717C>T | ||
| NM_033446.2:c.918C>T | NP_258257.1:p.Leu306= | |
| XM_005252297.1:c.873C>T | XP_005252354.1:p.Leu291= | |
| XM_011519177.1:c.1053C>T | XP_011517479.1:p.Leu351= | |
| XM_017015278.2:c.*91C>T | XP_016870767.1:n.*91C>T | |
| NM_033446.3:c.918C>T MANE Select | NP_258257.1:p.Leu306= |