Linked Data
ClinVar Variation Id:
126692
dbSNP Id:
rs515726101
ExAC:
16:23634427 A / G
gnomAD v2:
16-23634427-A-G
gnomAD v4:
16-23623106-A-G
PubMed:
PMID:21285249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623106A>G , CM000678.2:g.23623106A>G | GRCh38 |
| NC_000016.9:g.23634427A>G , CM000678.1:g.23634427A>G | GRCh37 |
| NC_000016.8:g.23541928A>G | NCBI36 |
| NG_007406.1:g.23252T>C , LRG_308:g.23252T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2865T>C | ENSP00000460666.3:p.Asp955= | |
| ENST00000565038.2:c.*340T>C | ENSP00000459882.2:n.*340T>C | |
| ENST00000566069.6:c.2859T>C | ENSP00000459237.2:p.Asp953= | |
| ENST00000697377.2:c.2703T>C | ENSP00000513286.2:p.Asp901= | |
| ENST00000697379.2:c.2865T>C | ENSP00000513287.2:p.Asp955= | |
| ENST00000561514.2:c.1974T>C | ENSP00000460666.2:p.Asp658= | |
| ENST00000697374.1:c.1974T>C | ENSP00000513284.1:p.Asp658= | |
| ENST00000697375.1:n.4206T>C | ||
| ENST00000697376.1:c.1974T>C | ENSP00000513285.1:p.Asp658= | |
| ENST00000697377.1:c.1812T>C | ENSP00000513286.1:p.Asp604= | |
| ENST00000697378.1:n.3379T>C | ||
| ENST00000697379.1:c.1974T>C | ENSP00000513287.1:p.Asp658= | |
| ENST00000697380.1:n.2151T>C | ||
| ENST00000697381.1:n.1554T>C | ||
| ENST00000697382.1:c.1974T>C | ENSP00000513288.1:p.Asp658= | |
| ENST00000697383.1:c.393T>C | ENSP00000513289.1:p.Asp131= | |
| ENST00000261584.9:c.2859T>C MANE Select | ENSP00000261584.4:p.Asp953= | |
| ENST00000261584.8:c.2859T>C | ENSP00000261584.4:p.Asp953= | |
| ENST00000568219.5:c.1974T>C | ENSP00000454703.2:p.Asp658= | |
| NM_024675.3:c.2859T>C , LRG_308t1:c.2859T>C | NP_078951.2:p.Asp953= | |
| XM_011545946.1:c.2865T>C | XP_011544248.1:p.Asp955= | |
| XM_011545947.1:c.2865T>C | XP_011544249.1:p.Asp955= | |
| XM_011545948.1:c.1974T>C | XP_011544250.1:p.Asp658= | |
| XR_950851.1:n.3655T>C | ||
| XM_011545946.2:c.2865T>C | XP_011544248.1:p.Asp955= | |
| XM_011545947.2:c.2865T>C | XP_011544249.1:p.Asp955= | |
| XM_011545948.2:c.1974T>C | XP_011544250.1:p.Asp658= | |
| XM_017023671.1:c.2865T>C | XP_016879160.1:p.Asp955= | |
| XM_017023672.2:c.2859T>C | XP_016879161.1:p.Asp953= | |
| XM_017023673.2:c.2859T>C | XP_016879162.1:p.Asp953= | |
| NM_024675.4:c.2859T>C MANE Select | NP_078951.2:p.Asp953= |