Linked Data
dbSNP Id:
rs1415739181
gnomAD v2:
13-20763478-C-G
gnomAD v3:
13-20189339-C-G
gnomAD v4:
13-20189339-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189339C>G , CM000675.2:g.20189339C>G | GRCh38 |
| NC_000013.10:g.20763478C>G , CM000675.1:g.20763478C>G | GRCh37 |
| NC_000013.9:g.19661478C>G | NCBI36 |
| NG_008358.1:g.8637G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.243G>C | ENSP00000372295.1:p.Leu81= | |
| ENST00000382848.5:c.243G>C MANE Select | ENSP00000372299.4:p.Leu81= | |
| ENST00000382844.1:c.243G>C | ENSP00000372295.1:p.Leu81= | |
| ENST00000382848.4:c.243G>C | ENSP00000372299.4:p.Leu81= | |
| NM_004004.5:c.243G>C | NP_003995.2:p.Leu81= | |
| XM_011535049.1:c.243G>C | XP_011533351.1:p.Leu81= | |
| XM_011535049.2:c.243G>C | XP_011533351.1:p.Leu81= | |
| NM_004004.6:c.243G>C MANE Select | NP_003995.2:p.Leu81= |