Linked Data
ClinVar Variation Id:
178803
dbSNP Id:
rs2303156
ExAC:
16:23387127 A / G
gnomAD v2:
16-23387127-A-G
gnomAD v3:
16-23375806-A-G
gnomAD v4:
16-23375806-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23375806A>G , CM000678.2:g.23375806A>G | GRCh38 |
| NC_000016.9:g.23387127A>G , CM000678.1:g.23387127A>G | GRCh37 |
| NC_000016.8:g.23294628A>G | NCBI36 |
| NG_011908.1:g.78537A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1221A>G MANE Select | ENSP00000345751.2:p.Pro407= | |
| ENST00000307331.9:c.1356A>G | ENSP00000302874.5:p.Pro452= | |
| ENST00000343070.6:c.1221A>G | ENSP00000345751.2:p.Pro407= | |
| ENST00000564275.5:c.*226A>G | ENSP00000457754.1:n.*226A>G | |
| ENST00000568085.5:c.1113A>G | ENSP00000455673.1:p.Pro371= | |
| ENST00000568923.5:c.1140A>G | ENSP00000456309.1:p.Pro380= | |
| NM_000336.2:c.1221A>G | NP_000327.2:p.Pro407= | |
| XM_011545913.1:c.1254A>G | XP_011544215.1:p.Pro418= | |
| XM_011545914.1:c.1239A>G | XP_011544216.1:p.Pro413= | |
| XM_011545913.2:c.1254A>G | XP_011544215.1:p.Pro418= | |
| XM_017023525.1:c.1278A>G | XP_016879014.1:p.Pro426= | |
| XM_017023526.1:c.1170A>G | XP_016879015.1:p.Pro390= | |
| NM_000336.3:c.1221A>G MANE Select | NP_000327.2:p.Pro407= |