Linked Data
dbSNP Id:
rs4795067
gnomAD v2:
17-26106675-A-G
gnomAD v3:
17-27779649-A-G
gnomAD v4:
17-27779649-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27779649A>G , CM000679.2:g.27779649A>G | GRCh38 |
| NC_000017.10:g.26106675A>G , CM000679.1:g.26106675A>G | GRCh37 |
| NC_000017.9:g.23130802A>G | NCBI36 |
| NG_011470.1:g.25881T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*451-593T>C | ENSP00000513259.1:n.*451-593T>C | |
| ENST00000697338.1:c.853-593T>C | ENSP00000513260.1:n.853-593T>C | |
| ENST00000697339.1:c.316-5198T>C | ENSP00000513261.1:n.316-5198T>C | |
| ENST00000697340.1:c.1002-593T>C | ENSP00000513262.1:n.1002-593T>C | |
| ENST00000697341.1:n.975-593T>C | ||
| ENST00000313735.11:c.1005-593T>C MANE Select | ENSP00000327251.6:n.1005-593T>C | |
| ENST00000646938.1:c.1002-593T>C | ENSP00000494870.1:n.1002-593T>C | |
| ENST00000313735.10:c.1005-593T>C | ENSP00000327251.6:n.1005-593T>C | |
| ENST00000621962.1:c.888-593T>C | ENSP00000482291.1:n.888-593T>C | |
| NM_000625.4:c.1005-593T>C MANE Select | NP_000616.3:n.1005-593T>C | |
| XM_011524859.1:c.1005-593T>C | XP_011523161.1:n.1005-593T>C | |
| XM_011524860.1:c.1002-593T>C | XP_011523162.1:n.1002-593T>C | |
| XM_011524861.1:c.1005-593T>C | XP_011523163.1:n.1005-593T>C | |
| XM_011524862.1:c.339-593T>C | XP_011523164.1:n.339-593T>C |