Linked Data
ClinVar Variation Id:
191522
dbSNP Id:
rs144875383
ExAC:
7:91712609 A / C
gnomAD v2:
7-91712609-A-C
gnomAD v3:
7-92083295-A-C
gnomAD v4:
7-92083295-A-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92083295A>C , CM000669.2:g.92083295A>C | GRCh38 |
| NC_000007.13:g.91712609A>C , CM000669.1:g.91712609A>C | GRCh37 |
| NC_000007.12:g.91550545A>C | NCBI36 |
| NG_011623.1:g.147421A>C , LRG_331:g.147421A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.8286A>C MANE Select | ENSP00000348573.3:p.Lys2762Asn | |
| ENST00000359028.7:c.8358A>C | ENSP00000351922.4:p.Lys2786Asn | |
| ENST00000394534.7:c.1779A>C | ENSP00000378042.3:p.Lys593Asn | |
| ENST00000435423.2:n.126A>C | ||
| ENST00000491695.2:c.2931A>C | ENSP00000494626.2:p.Lys977Asn | |
| ENST00000679448.1:c.8262A>C | ENSP00000505889.1:p.Lys2754Asn | |
| ENST00000679457.1:c.8262A>C | ENSP00000505450.1:p.Lys2754Asn | |
| ENST00000679474.1:n.8484A>C | ||
| ENST00000679521.1:c.8232A>C | ENSP00000505456.1:p.Lys2744Asn | |
| ENST00000679722.1:n.8508A>C | ||
| ENST00000679821.1:c.8028A>C | ENSP00000506040.1:p.Lys2676Asn | |
| ENST00000680047.1:n.8484A>C | ||
| ENST00000680072.1:c.8109A>C | ENSP00000506581.1:p.Lys2703Asn | |
| ENST00000680181.1:c.8193A>C | ENSP00000505548.1:p.Lys2731Asn | |
| ENST00000680365.1:c.1779A>C | ENSP00000506019.1:p.Lys593Asn | |
| ENST00000680513.1:c.8145A>C | ENSP00000505284.1:p.Lys2715Asn | |
| ENST00000680534.1:c.8325A>C | ENSP00000506674.1:p.Lys2775Asn | |
| ENST00000680766.1:c.8262A>C | ENSP00000505204.1:p.Lys2754Asn | |
| ENST00000680952.1:c.8262A>C | ENSP00000506407.1:p.Lys2754Asn | |
| ENST00000681216.1:c.1764+15A>C | ENSP00000505551.1:n.1764+15A>C | |
| ENST00000681412.1:c.8286A>C | ENSP00000506486.1:p.Lys2762Asn | |
| ENST00000681722.1:c.8262A>C | ENSP00000506566.1:p.Lys2754Asn | |
| ENST00000356239.7:c.8286A>C | ENSP00000348573.3:p.Lys2762Asn | |
| ENST00000358100.6:c.8145A>C | ENSP00000350813.3:p.Lys2715Asn | |
| ENST00000359028.6:c.8319A>C | ENSP00000351922.3:p.Lys2773Asn | |
| ENST00000394534.6:c.1824A>C | ENSP00000378042.2:p.Lys608Asn | |
| NM_005751.4:c.8286A>C , LRG_331t1:c.8286A>C | NP_005742.4:p.Lys2762Asn | |
| NM_147185.2:c.8262A>C | NP_671714.1:p.Lys2754Asn | |
| XM_006715827.1:c.8145A>C | XP_006715890.1:p.Lys2715Asn | |
| XM_011515709.1:c.8433A>C | XP_011514011.1:p.Lys2811Asn | |
| XM_011515710.1:c.8457A>C | XP_011514012.1:p.Lys2819Asn | |
| XM_011515711.1:c.8397A>C | XP_011514013.1:p.Lys2799Asn | |
| XM_011515712.1:c.8394A>C | XP_011514014.1:p.Lys2798Asn | |
| XM_011515713.1:c.8379A>C | XP_011514015.1:p.Lys2793Asn | |
| XM_011515714.1:c.8418A>C | XP_011514016.1:p.Lys2806Asn | |
| XM_011515716.1:c.8337A>C | XP_011514018.1:p.Lys2779Asn | |
| XM_011515717.1:c.8292A>C | XP_011514019.1:p.Lys2764Asn | |
| XM_011515718.1:c.8322A>C | XP_011514020.1:p.Lys2774Asn | |
| XM_011515719.1:c.8298A>C | XP_011514021.1:p.Lys2766Asn | |
| XM_011515720.1:c.8181A>C | XP_011514022.1:p.Lys2727Asn | |
| XM_011515721.1:c.2946A>C | XP_011514023.1:p.Lys982Asn | |
| XM_011515722.1:c.2907A>C | XP_011514024.1:p.Lys969Asn | |
| XM_017011642.2:c.8421A>C | XP_016867131.1:p.Lys2807Asn | |
| XM_017011643.2:c.8382A>C | XP_016867132.1:p.Lys2794Asn | |
| XM_017011644.2:c.8421A>C | XP_016867133.1:p.Lys2807Asn | |
| XM_017011645.2:c.8367A>C | XP_016867134.1:p.Lys2789Asn | |
| XM_017011646.2:c.8382A>C | XP_016867135.1:p.Lys2794Asn | |
| XM_017011647.2:c.8328A>C | XP_016867136.1:p.Lys2776Asn | |
| XM_017011648.2:c.8325A>C | XP_016867137.1:p.Lys2775Asn | |
| XM_017011649.2:c.8358A>C | XP_016867138.1:p.Lys2786Asn | |
| XM_017011650.2:c.8286A>C | XP_016867139.1:p.Lys2762Asn | |
| XM_017011651.2:c.8280A>C | XP_016867140.1:p.Lys2760Asn | |
| XM_017011652.2:c.8421A>C | XP_016867141.1:p.Lys2807Asn | |
| XM_017011653.2:c.8193A>C | XP_016867142.1:p.Lys2731Asn | |
| XM_017011654.2:c.8145A>C | XP_016867143.1:p.Lys2715Asn | |
| XM_017011655.2:c.8049A>C | XP_016867144.1:p.Lys2683Asn | |
| XM_017011656.2:c.8049A>C | XP_016867145.1:p.Lys2683Asn | |
| XM_017011657.2:c.4086A>C | XP_016867146.1:p.Lys1362Asn | |
| XM_017011658.2:c.2970A>C | XP_016867147.1:p.Lys990Asn | |
| XM_017011659.2:c.2931A>C | XP_016867148.1:p.Lys977Asn | |
| XM_017011660.2:c.2931A>C | XP_016867149.1:p.Lys977Asn | |
| XM_024446631.1:c.8184A>C | XP_024302399.1:p.Lys2728Asn | |
| NM_147185.3:c.8262A>C | NP_671714.1:p.Lys2754Asn | |
| NM_001379277.1:c.2931A>C | NP_001366206.1:p.Lys977Asn | |
| NM_005751.5:c.8286A>C MANE Select | NP_005742.4:p.Lys2762Asn |