Linked Data
ClinVar Variation Id:
191521
dbSNP Id:
rs201977551
ExAC:
7:91708935 T / G
gnomAD v2:
7-91708935-T-G
gnomAD v3:
7-92079621-T-G
gnomAD v4:
7-92079621-T-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079621T>G , CM000669.2:g.92079621T>G | GRCh38 |
| NC_000007.13:g.91708935T>G , CM000669.1:g.91708935T>G | GRCh37 |
| NC_000007.12:g.91546871T>G | NCBI36 |
| NG_011623.1:g.143747T>G , LRG_331:g.143747T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7488T>G MANE Select | ENSP00000348573.3:p.Asn2496Lys | |
| ENST00000359028.7:c.7560T>G | ENSP00000351922.4:p.Asn2520Lys | |
| ENST00000394534.7:c.981T>G | ENSP00000378042.3:p.Asn327Lys | |
| ENST00000491695.2:c.2133T>G | ENSP00000494626.2:p.Asn711Lys | |
| ENST00000674381.2:c.*7217T>G | ENSP00000501536.2:n.*7217T>G | |
| ENST00000679448.1:c.7464T>G | ENSP00000505889.1:p.Asn2488Lys | |
| ENST00000679457.1:c.7464T>G | ENSP00000505450.1:p.Asn2488Lys | |
| ENST00000679474.1:n.7686T>G | ||
| ENST00000679521.1:c.7434T>G | ENSP00000505456.1:p.Asn2478Lys | |
| ENST00000679554.1:c.*7273T>G | ENSP00000506415.1:n.*7273T>G | |
| ENST00000679722.1:n.7710T>G | ||
| ENST00000679821.1:c.7230T>G | ENSP00000506040.1:p.Asn2410Lys | |
| ENST00000680047.1:n.7686T>G | ||
| ENST00000680072.1:c.7311T>G | ENSP00000506581.1:p.Asn2437Lys | |
| ENST00000680181.1:c.7395T>G | ENSP00000505548.1:p.Asn2465Lys | |
| ENST00000680365.1:c.981T>G | ENSP00000506019.1:p.Asn327Lys | |
| ENST00000680513.1:c.7347T>G | ENSP00000505284.1:p.Asn2449Lys | |
| ENST00000680534.1:c.7527T>G | ENSP00000506674.1:p.Asn2509Lys | |
| ENST00000680766.1:c.7464T>G | ENSP00000505204.1:p.Asn2488Lys | |
| ENST00000680952.1:c.7464T>G | ENSP00000506407.1:p.Asn2488Lys | |
| ENST00000681216.1:c.981T>G | ENSP00000505551.1:p.Asn327Lys | |
| ENST00000681412.1:c.7488T>G | ENSP00000506486.1:p.Asn2496Lys | |
| ENST00000681722.1:c.7464T>G | ENSP00000506566.1:p.Asn2488Lys | |
| ENST00000356239.7:c.7488T>G | ENSP00000348573.3:p.Asn2496Lys | |
| ENST00000358100.6:c.7347T>G | ENSP00000350813.3:p.Asn2449Lys | |
| ENST00000359028.6:c.7521T>G | ENSP00000351922.3:p.Asn2507Lys | |
| ENST00000394534.6:c.1026T>G | ENSP00000378042.2:p.Asn342Lys | |
| NM_005751.4:c.7488T>G , LRG_331t1:c.7488T>G | NP_005742.4:p.Asn2496Lys | |
| NM_147185.2:c.7464T>G | NP_671714.1:p.Asn2488Lys | |
| XM_006715827.1:c.7347T>G | XP_006715890.1:p.Asn2449Lys | |
| XM_011515709.1:c.7635T>G | XP_011514011.1:p.Asn2545Lys | |
| XM_011515710.1:c.7659T>G | XP_011514012.1:p.Asn2553Lys | |
| XM_011515711.1:c.7599T>G | XP_011514013.1:p.Asn2533Lys | |
| XM_011515712.1:c.7596T>G | XP_011514014.1:p.Asn2532Lys | |
| XM_011515713.1:c.7581T>G | XP_011514015.1:p.Asn2527Lys | |
| XM_011515714.1:c.7620T>G | XP_011514016.1:p.Asn2540Lys | |
| XM_011515716.1:c.7539T>G | XP_011514018.1:p.Asn2513Lys | |
| XM_011515717.1:c.7494T>G | XP_011514019.1:p.Asn2498Lys | |
| XM_011515718.1:c.7524T>G | XP_011514020.1:p.Asn2508Lys | |
| XM_011515719.1:c.7500T>G | XP_011514021.1:p.Asn2500Lys | |
| XM_011515720.1:c.7383T>G | XP_011514022.1:p.Asn2461Lys | |
| XM_011515721.1:c.2148T>G | XP_011514023.1:p.Asn716Lys | |
| XM_011515722.1:c.2109T>G | XP_011514024.1:p.Asn703Lys | |
| XM_017011642.2:c.7623T>G | XP_016867131.1:p.Asn2541Lys | |
| XM_017011643.2:c.7584T>G | XP_016867132.1:p.Asn2528Lys | |
| XM_017011644.2:c.7623T>G | XP_016867133.1:p.Asn2541Lys | |
| XM_017011645.2:c.7569T>G | XP_016867134.1:p.Asn2523Lys | |
| XM_017011646.2:c.7584T>G | XP_016867135.1:p.Asn2528Lys | |
| XM_017011647.2:c.7530T>G | XP_016867136.1:p.Asn2510Lys | |
| XM_017011648.2:c.7527T>G | XP_016867137.1:p.Asn2509Lys | |
| XM_017011649.2:c.7560T>G | XP_016867138.1:p.Asn2520Lys | |
| XM_017011650.2:c.7488T>G | XP_016867139.1:p.Asn2496Lys | |
| XM_017011651.2:c.7482T>G | XP_016867140.1:p.Asn2494Lys | |
| XM_017011652.2:c.7623T>G | XP_016867141.1:p.Asn2541Lys | |
| XM_017011653.2:c.7395T>G | XP_016867142.1:p.Asn2465Lys | |
| XM_017011654.2:c.7347T>G | XP_016867143.1:p.Asn2449Lys | |
| XM_017011655.2:c.7251T>G | XP_016867144.1:p.Asn2417Lys | |
| XM_017011656.2:c.7251T>G | XP_016867145.1:p.Asn2417Lys | |
| XM_017011657.2:c.3288T>G | XP_016867146.1:p.Asn1096Lys | |
| XM_017011658.2:c.2172T>G | XP_016867147.1:p.Asn724Lys | |
| XM_017011659.2:c.2133T>G | XP_016867148.1:p.Asn711Lys | |
| XM_017011660.2:c.2133T>G | XP_016867149.1:p.Asn711Lys | |
| XM_024446631.1:c.7386T>G | XP_024302399.1:p.Asn2462Lys | |
| NM_147185.3:c.7464T>G | NP_671714.1:p.Asn2488Lys | |
| NM_001379277.1:c.2133T>G | NP_001366206.1:p.Asn711Lys | |
| NM_005751.5:c.7488T>G MANE Select | NP_005742.4:p.Asn2496Lys |