Linked Data
ClinVar Variation Id:
263437
dbSNP Id:
rs373320584
ExAC:
7:91709075 T / C
gnomAD v2:
7-91709075-T-C
gnomAD v3:
7-92079761-T-C
gnomAD v4:
7-92079761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079761T>C , CM000669.2:g.92079761T>C | GRCh38 |
| NC_000007.13:g.91709075T>C , CM000669.1:g.91709075T>C | GRCh37 |
| NC_000007.12:g.91547011T>C | NCBI36 |
| NG_011623.1:g.143887T>C , LRG_331:g.143887T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7628T>C MANE Select | ENSP00000348573.3:p.Leu2543Pro | |
| ENST00000359028.7:c.7700T>C | ENSP00000351922.4:p.Leu2567Pro | |
| ENST00000394534.7:c.1121T>C | ENSP00000378042.3:p.Leu374Pro | |
| ENST00000491695.2:c.2273T>C | ENSP00000494626.2:p.Leu758Pro | |
| ENST00000674381.2:c.*7357T>C | ENSP00000501536.2:n.*7357T>C | |
| ENST00000679448.1:c.7604T>C | ENSP00000505889.1:p.Leu2535Pro | |
| ENST00000679457.1:c.7604T>C | ENSP00000505450.1:p.Leu2535Pro | |
| ENST00000679474.1:n.7826T>C | ||
| ENST00000679521.1:c.7574T>C | ENSP00000505456.1:p.Leu2525Pro | |
| ENST00000679554.1:c.*7413T>C | ENSP00000506415.1:n.*7413T>C | |
| ENST00000679722.1:n.7850T>C | ||
| ENST00000679821.1:c.7370T>C | ENSP00000506040.1:p.Leu2457Pro | |
| ENST00000680047.1:n.7826T>C | ||
| ENST00000680072.1:c.7451T>C | ENSP00000506581.1:p.Leu2484Pro | |
| ENST00000680181.1:c.7535T>C | ENSP00000505548.1:p.Leu2512Pro | |
| ENST00000680365.1:c.1121T>C | ENSP00000506019.1:p.Leu374Pro | |
| ENST00000680513.1:c.7487T>C | ENSP00000505284.1:p.Leu2496Pro | |
| ENST00000680534.1:c.7667T>C | ENSP00000506674.1:p.Leu2556Pro | |
| ENST00000680766.1:c.7604T>C | ENSP00000505204.1:p.Leu2535Pro | |
| ENST00000680952.1:c.7604T>C | ENSP00000506407.1:p.Leu2535Pro | |
| ENST00000681216.1:c.1121T>C | ENSP00000505551.1:p.Leu374Pro | |
| ENST00000681412.1:c.7628T>C | ENSP00000506486.1:p.Leu2543Pro | |
| ENST00000681722.1:c.7604T>C | ENSP00000506566.1:p.Leu2535Pro | |
| ENST00000356239.7:c.7628T>C | ENSP00000348573.3:p.Leu2543Pro | |
| ENST00000358100.6:c.7487T>C | ENSP00000350813.3:p.Leu2496Pro | |
| ENST00000359028.6:c.7661T>C | ENSP00000351922.3:p.Leu2554Pro | |
| ENST00000394534.6:c.1166T>C | ENSP00000378042.2:p.Leu389Pro | |
| NM_005751.4:c.7628T>C , LRG_331t1:c.7628T>C | NP_005742.4:p.Leu2543Pro | |
| NM_147185.2:c.7604T>C | NP_671714.1:p.Leu2535Pro | |
| XM_006715827.1:c.7487T>C | XP_006715890.1:p.Leu2496Pro | |
| XM_011515709.1:c.7775T>C | XP_011514011.1:p.Leu2592Pro | |
| XM_011515710.1:c.7799T>C | XP_011514012.1:p.Leu2600Pro | |
| XM_011515711.1:c.7739T>C | XP_011514013.1:p.Leu2580Pro | |
| XM_011515712.1:c.7736T>C | XP_011514014.1:p.Leu2579Pro | |
| XM_011515713.1:c.7721T>C | XP_011514015.1:p.Leu2574Pro | |
| XM_011515714.1:c.7760T>C | XP_011514016.1:p.Leu2587Pro | |
| XM_011515716.1:c.7679T>C | XP_011514018.1:p.Leu2560Pro | |
| XM_011515717.1:c.7634T>C | XP_011514019.1:p.Leu2545Pro | |
| XM_011515718.1:c.7664T>C | XP_011514020.1:p.Leu2555Pro | |
| XM_011515719.1:c.7640T>C | XP_011514021.1:p.Leu2547Pro | |
| XM_011515720.1:c.7523T>C | XP_011514022.1:p.Leu2508Pro | |
| XM_011515721.1:c.2288T>C | XP_011514023.1:p.Leu763Pro | |
| XM_011515722.1:c.2249T>C | XP_011514024.1:p.Leu750Pro | |
| XM_017011642.2:c.7763T>C | XP_016867131.1:p.Leu2588Pro | |
| XM_017011643.2:c.7724T>C | XP_016867132.1:p.Leu2575Pro | |
| XM_017011644.2:c.7763T>C | XP_016867133.1:p.Leu2588Pro | |
| XM_017011645.2:c.7709T>C | XP_016867134.1:p.Leu2570Pro | |
| XM_017011646.2:c.7724T>C | XP_016867135.1:p.Leu2575Pro | |
| XM_017011647.2:c.7670T>C | XP_016867136.1:p.Leu2557Pro | |
| XM_017011648.2:c.7667T>C | XP_016867137.1:p.Leu2556Pro | |
| XM_017011649.2:c.7700T>C | XP_016867138.1:p.Leu2567Pro | |
| XM_017011650.2:c.7628T>C | XP_016867139.1:p.Leu2543Pro | |
| XM_017011651.2:c.7622T>C | XP_016867140.1:p.Leu2541Pro | |
| XM_017011652.2:c.7763T>C | XP_016867141.1:p.Leu2588Pro | |
| XM_017011653.2:c.7535T>C | XP_016867142.1:p.Leu2512Pro | |
| XM_017011654.2:c.7487T>C | XP_016867143.1:p.Leu2496Pro | |
| XM_017011655.2:c.7391T>C | XP_016867144.1:p.Leu2464Pro | |
| XM_017011656.2:c.7391T>C | XP_016867145.1:p.Leu2464Pro | |
| XM_017011657.2:c.3428T>C | XP_016867146.1:p.Leu1143Pro | |
| XM_017011658.2:c.2312T>C | XP_016867147.1:p.Leu771Pro | |
| XM_017011659.2:c.2273T>C | XP_016867148.1:p.Leu758Pro | |
| XM_017011660.2:c.2273T>C | XP_016867149.1:p.Leu758Pro | |
| XM_024446631.1:c.7526T>C | XP_024302399.1:p.Leu2509Pro | |
| NM_147185.3:c.7604T>C | NP_671714.1:p.Leu2535Pro | |
| NM_001379277.1:c.2273T>C | NP_001366206.1:p.Leu758Pro | |
| NM_005751.5:c.7628T>C MANE Select | NP_005742.4:p.Leu2543Pro |