Linked Data
dbSNP Id:
rs2340690
gnomAD v2:
2-198360886-A-G
gnomAD v3:
2-197496162-A-G
gnomAD v4:
2-197496162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197496162A>G , CM000664.2:g.197496162A>G | GRCh38 |
| NC_000002.11:g.198360886A>G , CM000664.1:g.198360886A>G | GRCh37 |
| NC_000002.10:g.198069131A>G | NCBI36 |
| NG_008914.1:g.1166A>G | |
| NG_008915.1:g.9113T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388968.8:c.428-786T>C MANE Select | ENSP00000373620.3:n.428-786T>C | |
| ENST00000418022.2:c.428-786T>C | ENSP00000412227.2:n.428-786T>C | |
| ENST00000426480.2:c.428-786T>C | ENSP00000414446.2:n.428-786T>C | |
| ENST00000428204.6:c.428-786T>C | ENSP00000396460.2:n.428-786T>C | |
| ENST00000430176.6:c.428-786T>C | ENSP00000393670.2:n.428-786T>C | |
| ENST00000439605.2:c.428-786T>C | ENSP00000402478.2:n.428-786T>C | |
| ENST00000440114.2:c.*234-786T>C | ENSP00000390404.1:n.*234-786T>C | |
| ENST00000452200.6:c.428-786T>C | ENSP00000412717.2:n.428-786T>C | |
| ENST00000461097.2:n.1443T>C | ||
| ENST00000476746.6:n.529-786T>C | ||
| ENST00000676933.1:c.428-786T>C | ENSP00000503144.1:n.428-786T>C | |
| ENST00000677403.1:c.428-786T>C | ENSP00000504667.1:n.428-786T>C | |
| ENST00000677454.1:c.428-786T>C | ENSP00000503295.1:n.428-786T>C | |
| ENST00000677792.1:c.428-786T>C | ENSP00000504645.1:n.428-786T>C | |
| ENST00000677913.1:c.428-786T>C | ENSP00000503139.1:n.428-786T>C | |
| ENST00000678170.1:c.427+978T>C | ENSP00000503910.1:n.427+978T>C | |
| ENST00000678545.1:c.428-786T>C | ENSP00000502920.1:n.428-786T>C | |
| ENST00000678621.1:c.428-786T>C | ENSP00000504328.1:n.428-786T>C | |
| ENST00000678761.1:c.428-786T>C | ENSP00000503894.1:n.428-786T>C | |
| ENST00000678969.1:n.528-786T>C | ||
| ENST00000679291.1:c.428-786T>C | ENSP00000504417.1:n.428-786T>C | |
| ENST00000345042.6:c.428-786T>C | ENSP00000340019.2:n.428-786T>C | |
| ENST00000388968.7:c.428-786T>C | ENSP00000373620.3:n.428-786T>C | |
| ENST00000430176.5:c.428-786T>C | ENSP00000393670.1:n.428-786T>C | |
| ENST00000440114.1:c.*234-786T>C | ENSP00000390404.1:n.*234-786T>C | |
| ENST00000452200.5:c.428-786T>C | ENSP00000412717.1:n.428-786T>C | |
| ENST00000476746.5:n.528-786T>C | ||
| ENST00000486181.5:n.369-786T>C | ||
| NM_002156.4:c.428-786T>C | NP_002147.2:n.428-786T>C | |
| NM_199440.1:c.428-786T>C | NP_955472.1:n.428-786T>C | |
| XM_005246518.2:c.428-786T>C | XP_005246575.1:n.428-786T>C | |
| NM_002156.5:c.428-786T>C MANE Select | NP_002147.2:n.428-786T>C | |
| NM_199440.2:c.428-786T>C | NP_955472.1:n.428-786T>C |