Linked Data
ClinVar Variation Id:
182789
dbSNP Id:
rs577969558
ExAC:
16:23646396 C / G
gnomAD v2:
16-23646396-C-G
gnomAD v3:
16-23635075-C-G
gnomAD v4:
16-23635075-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635075C>G , CM000678.2:g.23635075C>G | GRCh38 |
| NC_000016.9:g.23646396C>G , CM000678.1:g.23646396C>G | GRCh37 |
| NC_000016.8:g.23553897C>G | NCBI36 |
| NG_007406.1:g.11283G>C , LRG_308:g.11283G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1477G>C | ENSP00000460666.3:p.Ala493Pro | |
| ENST00000565038.2:c.211+2775G>C | ENSP00000459882.2:n.211+2775G>C | |
| ENST00000566069.6:c.1471G>C | ENSP00000459237.2:p.Ala491Pro | |
| ENST00000697377.2:c.1477G>C | ENSP00000513286.2:p.Ala493Pro | |
| ENST00000697379.2:c.1477G>C | ENSP00000513287.2:p.Ala493Pro | |
| ENST00000561514.2:c.586G>C | ENSP00000460666.2:p.Ala196Pro | |
| ENST00000697374.1:c.586G>C | ENSP00000513284.1:p.Ala196Pro | |
| ENST00000697375.1:n.2818G>C | ||
| ENST00000697376.1:c.586G>C | ENSP00000513285.1:p.Ala196Pro | |
| ENST00000697377.1:c.586G>C | ENSP00000513286.1:p.Ala196Pro | |
| ENST00000697378.1:n.1991G>C | ||
| ENST00000697379.1:c.586G>C | ENSP00000513287.1:p.Ala196Pro | |
| ENST00000697382.1:c.586G>C | ENSP00000513288.1:p.Ala196Pro | |
| ENST00000697383.1:c.49-5800G>C | ENSP00000513289.1:n.49-5800G>C | |
| ENST00000697384.1:n.1625G>C | ||
| ENST00000261584.9:c.1471G>C MANE Select | ENSP00000261584.4:p.Ala491Pro | |
| ENST00000261584.8:c.1471G>C | ENSP00000261584.4:p.Ala491Pro | |
| ENST00000565038.1:c.86+2775G>C | ||
| ENST00000568219.5:c.586G>C | ENSP00000454703.2:p.Ala196Pro | |
| NM_024675.3:c.1471G>C , LRG_308t1:c.1471G>C | NP_078951.2:p.Ala491Pro | |
| XM_011545946.1:c.1477G>C | XP_011544248.1:p.Ala493Pro | |
| XM_011545947.1:c.1477G>C | XP_011544249.1:p.Ala493Pro | |
| XM_011545948.1:c.586G>C | XP_011544250.1:p.Ala196Pro | |
| XR_950851.1:n.2267G>C | ||
| XM_011545946.2:c.1477G>C | XP_011544248.1:p.Ala493Pro | |
| XM_011545947.2:c.1477G>C | XP_011544249.1:p.Ala493Pro | |
| XM_011545948.2:c.586G>C | XP_011544250.1:p.Ala196Pro | |
| XM_017023671.1:c.1477G>C | XP_016879160.1:p.Ala493Pro | |
| XM_017023672.2:c.1471G>C | XP_016879161.1:p.Ala491Pro | |
| XM_017023673.2:c.1471G>C | XP_016879162.1:p.Ala491Pro | |
| NM_024675.4:c.1471G>C MANE Select | NP_078951.2:p.Ala491Pro |