Linked Data
ClinVar Variation Id:
508773
dbSNP Id:
rs200730225
ExAC:
7:91670215 A / C
gnomAD v2:
7-91670215-A-C
gnomAD v3:
7-92040901-A-C
gnomAD v4:
7-92040901-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92040901A>C , CM000669.2:g.92040901A>C | GRCh38 |
| NC_000007.13:g.91670215A>C , CM000669.1:g.91670215A>C | GRCh37 |
| NC_000007.12:g.91508151A>C | NCBI36 |
| NG_011623.1:g.105027A>C , LRG_331:g.105027A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.4917+3A>C MANE Select | ENSP00000348573.3:n.4917+3A>C | |
| ENST00000359028.7:c.4917+3A>C | ENSP00000351922.4:n.4917+3A>C | |
| ENST00000674381.2:c.*4646+3A>C | ENSP00000501536.2:n.*4646+3A>C | |
| ENST00000679448.1:c.4917+3A>C | ENSP00000505889.1:n.4917+3A>C | |
| ENST00000679457.1:c.4917+3A>C | ENSP00000505450.1:n.4917+3A>C | |
| ENST00000679474.1:n.5139+3A>C | ||
| ENST00000679521.1:c.4863+3A>C | ENSP00000505456.1:n.4863+3A>C | |
| ENST00000679554.1:c.*4702+3A>C | ENSP00000506415.1:n.*4702+3A>C | |
| ENST00000679722.1:n.5139+3A>C | ||
| ENST00000679821.1:c.4659+3A>C | ENSP00000506040.1:n.4659+3A>C | |
| ENST00000680047.1:n.5139+3A>C | ||
| ENST00000680072.1:c.4917+3A>C | ENSP00000506581.1:n.4917+3A>C | |
| ENST00000680074.1:n.5139+3A>C | ||
| ENST00000680181.1:c.4824+3A>C | ENSP00000505548.1:n.4824+3A>C | |
| ENST00000680513.1:c.4917+3A>C | ENSP00000505284.1:n.4917+3A>C | |
| ENST00000680534.1:c.4917+3A>C | ENSP00000506674.1:n.4917+3A>C | |
| ENST00000680766.1:c.4917+3A>C | ENSP00000505204.1:n.4917+3A>C | |
| ENST00000680952.1:c.4917+3A>C | ENSP00000506407.1:n.4917+3A>C | |
| ENST00000681412.1:c.4917+3A>C | ENSP00000506486.1:n.4917+3A>C | |
| ENST00000681722.1:c.4917+3A>C | ENSP00000506566.1:n.4917+3A>C | |
| ENST00000356239.7:c.4917+3A>C | ENSP00000348573.3:n.4917+3A>C | |
| ENST00000358100.6:c.4917+3A>C | ENSP00000350813.3:n.4917+3A>C | |
| ENST00000359028.6:c.4950+3A>C | ENSP00000351922.3:n.4950+3A>C | |
| ENST00000484815.1:n.195+3A>C | ||
| ENST00000493453.1:n.5140A>C | ||
| ENST00000619023.4:c.*28A>C | ENSP00000480807.1:n.*28A>C | |
| NM_005751.4:c.4917+3A>C , LRG_331t1:c.4917+3A>C | NP_005742.4:n.4917+3A>C | |
| NM_147185.2:c.4917+3A>C | NP_671714.1:n.4917+3A>C | |
| XM_006715827.1:c.4917+3A>C | XP_006715890.1:n.4917+3A>C | |
| XM_011515709.1:c.4953+3A>C | XP_011514011.1:n.4953+3A>C | |
| XM_011515710.1:c.4953+3A>C | XP_011514012.1:n.4953+3A>C | |
| XM_011515711.1:c.4917+3A>C | XP_011514013.1:n.4917+3A>C | |
| XM_011515712.1:c.4953+3A>C | XP_011514014.1:n.4953+3A>C | |
| XM_011515713.1:c.4899+3A>C | XP_011514015.1:n.4899+3A>C | |
| XM_011515714.1:c.4953+3A>C | XP_011514016.1:n.4953+3A>C | |
| XM_011515716.1:c.4953+3A>C | XP_011514018.1:n.4953+3A>C | |
| XM_011515717.1:c.4953+3A>C | XP_011514019.1:n.4953+3A>C | |
| XM_011515718.1:c.4953+3A>C | XP_011514020.1:n.4953+3A>C | |
| XM_011515719.1:c.4953+3A>C | XP_011514021.1:n.4953+3A>C | |
| XM_011515720.1:c.4953+3A>C | XP_011514022.1:n.4953+3A>C | |
| XM_017011642.2:c.4917+3A>C | XP_016867131.1:n.4917+3A>C | |
| XM_017011643.2:c.4917+3A>C | XP_016867132.1:n.4917+3A>C | |
| XM_017011644.2:c.4917+3A>C | XP_016867133.1:n.4917+3A>C | |
| XM_017011645.2:c.4863+3A>C | XP_016867134.1:n.4863+3A>C | |
| XM_017011646.2:c.4917+3A>C | XP_016867135.1:n.4917+3A>C | |
| XM_017011647.2:c.4824+3A>C | XP_016867136.1:n.4824+3A>C | |
| XM_017011648.2:c.4917+3A>C | XP_016867137.1:n.4917+3A>C | |
| XM_017011649.2:c.4917+3A>C | XP_016867138.1:n.4917+3A>C | |
| XM_017011650.2:c.4917+3A>C | XP_016867139.1:n.4917+3A>C | |
| XM_017011651.2:c.4917+3A>C | XP_016867140.1:n.4917+3A>C | |
| XM_017011652.2:c.4917+3A>C | XP_016867141.1:n.4917+3A>C | |
| XM_017011653.2:c.4824+3A>C | XP_016867142.1:n.4824+3A>C | |
| XM_017011654.2:c.4917+3A>C | XP_016867143.1:n.4917+3A>C | |
| XM_017011655.2:c.4545+3A>C | XP_016867144.1:n.4545+3A>C | |
| XM_017011656.2:c.4545+3A>C | XP_016867145.1:n.4545+3A>C | |
| XM_017011657.2:c.582+3A>C | XP_016867146.1:n.582+3A>C | |
| XM_024446631.1:c.4917+3A>C | XP_024302399.1:n.4917+3A>C | |
| NM_147185.3:c.4917+3A>C | NP_671714.1:n.4917+3A>C | |
| NM_005751.5:c.4917+3A>C MANE Select | NP_005742.4:n.4917+3A>C |