Linked Data
ClinVar Variation Id:
220501
ClinVar RCV Id:
RCV000205658
RCV000246728
RCV000297662
RCV000624952
RCV001553705
RCV001706195
RCV003927876
dbSNP Id:
rs147494754
ExAC:
7:91694541 A / G
gnomAD v2:
7-91694541-A-G
gnomAD v3:
7-92065227-A-G
gnomAD v4:
7-92065227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92065227A>G , CM000669.2:g.92065227A>G | GRCh38 |
| NC_000007.13:g.91694541A>G , CM000669.1:g.91694541A>G | GRCh37 |
| NC_000007.12:g.91532477A>G | NCBI36 |
| NG_011623.1:g.129353A>G , LRG_331:g.129353A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.5978-4A>G MANE Select | ENSP00000348573.3:n.5978-4A>G | |
| ENST00000359028.7:c.6074-4A>G | ENSP00000351922.4:n.6074-4A>G | |
| ENST00000491695.2:c.623-4A>G | ENSP00000494626.2:n.623-4A>G | |
| ENST00000674381.2:c.*5707-4A>G | ENSP00000501536.2:n.*5707-4A>G | |
| ENST00000679448.1:c.5978-4A>G | ENSP00000505889.1:n.5978-4A>G | |
| ENST00000679457.1:c.5978-4A>G | ENSP00000505450.1:n.5978-4A>G | |
| ENST00000679474.1:n.6200-4A>G | ||
| ENST00000679521.1:c.5924-4A>G | ENSP00000505456.1:n.5924-4A>G | |
| ENST00000679554.1:c.*5763-4A>G | ENSP00000506415.1:n.*5763-4A>G | |
| ENST00000679722.1:n.6200-4A>G | ||
| ENST00000679821.1:c.5720-4A>G | ENSP00000506040.1:n.5720-4A>G | |
| ENST00000680047.1:n.6200-4A>G | ||
| ENST00000680072.1:c.5978-4A>G | ENSP00000506581.1:n.5978-4A>G | |
| ENST00000680074.1:n.8940A>G | ||
| ENST00000680181.1:c.5885-4A>G | ENSP00000505548.1:n.5885-4A>G | |
| ENST00000680513.1:c.5837-4A>G | ENSP00000505284.1:n.5837-4A>G | |
| ENST00000680534.1:c.6017-4A>G | ENSP00000506674.1:n.6017-4A>G | |
| ENST00000680766.1:c.5978-4A>G | ENSP00000505204.1:n.5978-4A>G | |
| ENST00000680952.1:c.5978-4A>G | ENSP00000506407.1:n.5978-4A>G | |
| ENST00000681412.1:c.5978-4A>G | ENSP00000506486.1:n.5978-4A>G | |
| ENST00000681722.1:c.5978-4A>G | ENSP00000506566.1:n.5978-4A>G | |
| ENST00000356239.7:c.5978-4A>G | ENSP00000348573.3:n.5978-4A>G | |
| ENST00000358100.6:c.5837-4A>G | ENSP00000350813.3:n.5837-4A>G | |
| ENST00000359028.6:c.6011-4A>G | ENSP00000351922.3:n.6011-4A>G | |
| ENST00000491695.1:n.1166-4A>G | ||
| NM_005751.4:c.5978-4A>G , LRG_331t1:c.5978-4A>G | NP_005742.4:n.5978-4A>G | |
| NM_147185.2:c.5978-4A>G | NP_671714.1:n.5978-4A>G | |
| XM_006715827.1:c.5837-4A>G | XP_006715890.1:n.5837-4A>G | |
| XM_011515709.1:c.6149-4A>G | XP_011514011.1:n.6149-4A>G | |
| XM_011515710.1:c.6149-4A>G | XP_011514012.1:n.6149-4A>G | |
| XM_011515711.1:c.6113-4A>G | XP_011514013.1:n.6113-4A>G | |
| XM_011515712.1:c.6110-4A>G | XP_011514014.1:n.6110-4A>G | |
| XM_011515713.1:c.6095-4A>G | XP_011514015.1:n.6095-4A>G | |
| XM_011515714.1:c.6110-4A>G | XP_011514016.1:n.6110-4A>G | |
| XM_011515716.1:c.6053-4A>G | XP_011514018.1:n.6053-4A>G | |
| XM_011515717.1:c.6008-4A>G | XP_011514019.1:n.6008-4A>G | |
| XM_011515718.1:c.6014-4A>G | XP_011514020.1:n.6014-4A>G | |
| XM_011515719.1:c.6014-4A>G | XP_011514021.1:n.6014-4A>G | |
| XM_011515720.1:c.5873-4A>G | XP_011514022.1:n.5873-4A>G | |
| XM_011515721.1:c.662-4A>G | XP_011514023.1:n.662-4A>G | |
| XM_011515722.1:c.623-4A>G | XP_011514024.1:n.623-4A>G | |
| XM_017011642.2:c.6113-4A>G | XP_016867131.1:n.6113-4A>G | |
| XM_017011643.2:c.6074-4A>G | XP_016867132.1:n.6074-4A>G | |
| XM_017011644.2:c.6113-4A>G | XP_016867133.1:n.6113-4A>G | |
| XM_017011645.2:c.6059-4A>G | XP_016867134.1:n.6059-4A>G | |
| XM_017011646.2:c.6074-4A>G | XP_016867135.1:n.6074-4A>G | |
| XM_017011647.2:c.6020-4A>G | XP_016867136.1:n.6020-4A>G | |
| XM_017011648.2:c.6017-4A>G | XP_016867137.1:n.6017-4A>G | |
| XM_017011649.2:c.6074-4A>G | XP_016867138.1:n.6074-4A>G | |
| XM_017011650.2:c.5978-4A>G | XP_016867139.1:n.5978-4A>G | |
| XM_017011651.2:c.5972-4A>G | XP_016867140.1:n.5972-4A>G | |
| XM_017011652.2:c.6113-4A>G | XP_016867141.1:n.6113-4A>G | |
| XM_017011653.2:c.5885-4A>G | XP_016867142.1:n.5885-4A>G | |
| XM_017011654.2:c.5837-4A>G | XP_016867143.1:n.5837-4A>G | |
| XM_017011655.2:c.5741-4A>G | XP_016867144.1:n.5741-4A>G | |
| XM_017011656.2:c.5741-4A>G | XP_016867145.1:n.5741-4A>G | |
| XM_017011657.2:c.1778-4A>G | XP_016867146.1:n.1778-4A>G | |
| XM_017011658.2:c.662-4A>G | XP_016867147.1:n.662-4A>G | |
| XM_017011659.2:c.623-4A>G | XP_016867148.1:n.623-4A>G | |
| XM_017011660.2:c.623-4A>G | XP_016867149.1:n.623-4A>G | |
| XM_024446631.1:c.5876-4A>G | XP_024302399.1:n.5876-4A>G | |
| NM_147185.3:c.5978-4A>G | NP_671714.1:n.5978-4A>G | |
| NM_001379277.1:c.623-4A>G | NP_001366206.1:n.623-4A>G | |
| NM_005751.5:c.5978-4A>G MANE Select | NP_005742.4:n.5978-4A>G |