Linked Data
ClinVar Variation Id:
1166973
dbSNP Id:
rs12191022
ExAC:
6:159398764 G / A
gnomAD v2:
6-159398764-G-A
gnomAD v3:
6-158977732-G-A
gnomAD v4:
6-158977732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158977732G>A , CM000668.2:g.158977732G>A | GRCh38 |
| NC_000006.11:g.159398764G>A , CM000668.1:g.159398764G>A | GRCh37 |
| NC_000006.10:g.159318752G>A | NCBI36 |
| NG_051819.1:g.27456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367069.7:c.1063C>T MANE Select | ENSP00000356036.1:p.Leu355= | |
| ENST00000252655.1:c.1489C>T | ENSP00000252655.1:p.Leu497= | |
| ENST00000367069.6:c.1063C>T | ENSP00000356036.1:p.Leu355= | |
| ENST00000449822.5:c.775C>T | ENSP00000393195.1:p.Leu259= | |
| NM_031924.4:c.1489C>T | NP_114130.3:p.Leu497= | |
| XM_005267153.3:c.1201C>T | XP_005267210.1:p.Leu401= | |
| XR_245553.2:n.1945C>T | ||
| NM_001346418.1:c.1201C>T | NP_001333347.1:p.Leu401= | |
| NM_031924.5:c.1489C>T | NP_114130.3:p.Leu497= | |
| NR_144434.1:n.1700C>T | ||
| XM_017011347.2:c.673C>T | XP_016866836.1:p.Leu225= | |
| XM_024446566.1:c.673C>T | XP_024302334.1:p.Leu225= | |
| XR_001743668.2:n.1939C>T | ||
| XR_001743669.2:n.1939C>T | ||
| XR_001743670.2:n.1651C>T | ||
| XR_001743671.2:n.1145C>T | ||
| NM_031924.6:c.1489C>T | NP_114130.3:p.Leu497= | |
| NM_031924.8:c.1063C>T MANE Select | NP_114130.4:p.Leu355= |