Linked Data
dbSNP Id:
rs775399071
ExAC:
20:45242215 G / A
gnomAD v2:
20-45242215-G-A
gnomAD v3:
20-46613576-G-A
gnomAD v4:
20-46613576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46613576G>A , CM000682.2:g.46613576G>A | GRCh38 |
| NC_000020.10:g.45242215G>A , CM000682.1:g.45242215G>A | GRCh37 |
| NC_000020.9:g.44675622G>A | NCBI36 |
| NG_047182.1:g.75910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.261C>T MANE Select | ENSP00000279027.4:p.Leu87= | |
| ENST00000279027.8:c.261C>T | ENSP00000279027.4:p.Leu87= | |
| ENST00000290317.9:c.120C>T | ENSP00000290317.5:p.Leu40= | |
| ENST00000372121.5:c.120C>T | ENSP00000361193.2:p.Leu40= | |
| ENST00000413164.6:c.261C>T | ENSP00000415852.2:p.Leu87= | |
| ENST00000417157.2:c.120C>T | ENSP00000397955.2:p.Leu40= | |
| ENST00000420568.5:c.150C>T | ENSP00000395095.1:p.Leu50= | |
| ENST00000468915.5:c.120C>T | ENSP00000417784.1:p.Leu40= | |
| ENST00000472148.5:c.120C>T | ENSP00000420177.1:p.Leu40= | |
| ENST00000495082.5:c.120C>T | ENSP00000419621.1:p.Leu40= | |
| NM_001011554.2:c.120C>T | NP_001011554.1:p.Leu40= | |
| NM_001193339.1:c.261C>T | NP_001180268.1:p.Leu87= | |
| NM_001193340.1:c.120C>T | NP_001180269.1:p.Leu40= | |
| NM_001193342.1:c.-10-24C>T | NP_001180271.1:n.-10-24C>T | |
| NM_022829.5:c.261C>T | NP_073740.2:p.Leu87= | |
| NM_022829.6:c.261C>T MANE Select | NP_073740.2:p.Leu87= | |
| NM_001011554.3:c.120C>T | NP_001011554.1:p.Leu40= | |
| NM_001193339.2:c.261C>T | NP_001180268.1:p.Leu87= | |
| NM_001193340.2:c.120C>T | NP_001180269.1:p.Leu40= | |
| NM_001193342.2:c.-10-24C>T | NP_001180271.1:n.-10-24C>T |