Linked Data
ClinVar Variation Id:
318442
dbSNP Id:
rs541449814
ExAC:
16:23391885 A / G
gnomAD v2:
16-23391885-A-G
gnomAD v3:
16-23380564-A-G
gnomAD v4:
16-23380564-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380564A>G , CM000678.2:g.23380564A>G | GRCh38 |
| NC_000016.9:g.23391885A>G , CM000678.1:g.23391885A>G | GRCh37 |
| NC_000016.8:g.23299386A>G | NCBI36 |
| NG_011908.1:g.83295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1686A>G MANE Select | ENSP00000345751.2:p.Leu562= | |
| ENST00000307331.9:c.1821A>G | ENSP00000302874.5:p.Leu607= | |
| ENST00000343070.6:c.1686A>G | ENSP00000345751.2:p.Leu562= | |
| ENST00000564275.5:c.*691A>G | ENSP00000457754.1:n.*691A>G | |
| ENST00000568085.5:c.1578A>G | ENSP00000455673.1:p.Leu526= | |
| ENST00000568923.5:c.1605A>G | ENSP00000456309.1:p.Leu535= | |
| NM_000336.2:c.1686A>G | NP_000327.2:p.Leu562= | |
| XM_011545913.1:c.1719A>G | XP_011544215.1:p.Leu573= | |
| XM_011545914.1:c.1704A>G | XP_011544216.1:p.Leu568= | |
| XM_011545913.2:c.1719A>G | XP_011544215.1:p.Leu573= | |
| XM_017023525.1:c.1743A>G | XP_016879014.1:p.Leu581= | |
| XM_017023526.1:c.1635A>G | XP_016879015.1:p.Leu545= | |
| NM_000336.3:c.1686A>G MANE Select | NP_000327.2:p.Leu562= |