Linked Data
dbSNP Id:
rs576903115
gnomAD v2:
12-8212429-A-T
gnomAD v3:
12-8059833-A-T
gnomAD v4:
12-8059833-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8059833A>T , CM000674.2:g.8059833A>T | GRCh38 |
| NC_000012.11:g.8212429A>T , CM000674.1:g.8212429A>T | GRCh37 |
| NC_000012.10:g.8103696A>T | NCBI36 |
| NG_050736.1:g.11639T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307637.5:c.353T>A MANE Select | ENSP00000302079.4:p.Leu118Gln | |
| ENST00000307637.4:c.353T>A | ENSP00000302079.4:p.Leu118Gln | |
| ENST00000546241.1:c.353T>A | ENSP00000444500.1:p.Leu118Gln | |
| NM_004054.2:c.353T>A | NP_004045.1:p.Leu118Gln | |
| NM_001326475.1:c.353T>A | NP_001313404.1:p.Leu118Gln | |
| NM_001326477.1:c.353T>A | NP_001313406.1:p.Leu118Gln | |
| NM_004054.3:c.353T>A | NP_004045.1:p.Leu118Gln | |
| NM_001326475.2:c.353T>A | NP_001313404.1:p.Leu118Gln | |
| NM_001326477.2:c.353T>A | NP_001313406.1:p.Leu118Gln | |
| NM_004054.4:c.353T>A MANE Select | NP_004045.1:p.Leu118Gln |