Linked Data
dbSNP Id:
rs7190458
ExAC:
16:75263661 G / A
gnomAD v2:
16-75263661-G-A
gnomAD v3:
16-75229763-G-A
gnomAD v4:
16-75229763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75229763G>A , CM000678.2:g.75229763G>A | GRCh38 |
| NC_000016.9:g.75263661G>A , CM000678.1:g.75263661G>A | GRCh37 |
| NC_000016.8:g.73821162G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000162330.10:c.2361C>T MANE Select | ENSP00000162330.5:p.Leu787= | |
| ENST00000162330.9:c.2361C>T | ENSP00000162330.5:p.Leu787= | |
| ENST00000393420.10:c.2415C>T | ENSP00000377072.6:p.Leu805= | |
| ENST00000393422.6:c.2415C>T | ENSP00000377074.2:p.Leu805= | |
| ENST00000418647.7:c.2499C>T | ENSP00000391669.3:p.Leu833= | |
| ENST00000420641.7:c.2415C>T | ENSP00000392708.3:p.Leu805= | |
| ENST00000535626.6:c.1917C>T | ENSP00000440370.2:p.Leu639= | |
| ENST00000538440.6:c.2361C>T | ENSP00000443841.2:p.Leu787= | |
| ENST00000542031.6:c.2355C>T | ENSP00000440415.2:p.Leu785= | |
| ENST00000562556.5:c.*3038C>T | ENSP00000455166.1:n.*3038C>T | |
| ENST00000563038.5:n.1966C>T | ||
| ENST00000566982.1:n.2298C>T | ||
| NM_001170714.1:c.2499C>T | NP_001164185.1:p.Leu833= | |
| NM_001170715.1:c.2415C>T | NP_001164186.1:p.Leu805= | |
| NM_001170716.1:c.2415C>T | NP_001164187.1:p.Leu805= | |
| NM_001170717.1:c.2415C>T | NP_001164188.1:p.Leu805= | |
| NM_001170718.1:c.2361C>T | NP_001164189.1:p.Leu787= | |
| NM_001170719.1:c.2355C>T | NP_001164190.1:p.Leu785= | |
| NM_001170720.1:c.1917C>T | NP_001164191.1:p.Leu639= | |
| NM_001170721.1:c.1731C>T | NP_001164192.1:p.Leu577= | |
| NM_014567.3:c.2361C>T | NP_055382.2:p.Leu787= | |
| XM_005256258.3:c.2439C>T | XP_005256315.1:p.Leu813= | |
| XM_005256259.3:c.2361C>T | XP_005256316.1:p.Leu787= | |
| XM_005256260.3:c.2274C>T | XP_005256317.1:p.Leu758= | |
| XM_011523473.1:c.2511C>T | XP_011521775.1:p.Leu837= | |
| XM_011523474.1:c.2082C>T | XP_011521776.1:p.Leu694= | |
| XM_011523475.1:c.2274C>T | XP_011521777.1:p.Leu758= | |
| NM_001170714.2:c.2499C>T | NP_001164185.1:p.Leu833= | |
| NM_001170715.2:c.2415C>T | NP_001164186.1:p.Leu805= | |
| NM_001170716.2:c.2415C>T | NP_001164187.1:p.Leu805= | |
| NM_001170717.2:c.2415C>T | NP_001164188.1:p.Leu805= | |
| NM_001170718.2:c.2361C>T | NP_001164189.1:p.Leu787= | |
| NM_001170719.2:c.2355C>T | NP_001164190.1:p.Leu785= | |
| NM_001170720.2:c.1917C>T | NP_001164191.1:p.Leu639= | |
| NM_001170721.2:c.1731C>T | NP_001164192.1:p.Leu577= | |
| NM_014567.4:c.2361C>T | NP_055382.2:p.Leu787= | |
| XM_005256258.5:c.2439C>T | XP_005256315.1:p.Leu813= | |
| XM_005256259.5:c.2361C>T | XP_005256316.1:p.Leu787= | |
| XM_005256260.5:c.2274C>T | XP_005256317.1:p.Leu758= | |
| XM_011523475.3:c.2274C>T | XP_011521777.1:p.Leu758= | |
| XM_017023897.2:c.2499C>T | XP_016879386.1:p.Leu833= | |
| XM_017023898.2:c.2409C>T | XP_016879387.1:p.Leu803= | |
| XM_017023899.2:c.2220C>T | XP_016879388.1:p.Leu740= | |
| XM_024450494.1:c.2274C>T | XP_024306262.1:p.Leu758= | |
| XM_024450495.1:c.2274C>T | XP_024306263.1:p.Leu758= | |
| XM_024450496.1:c.2274C>T | XP_024306264.1:p.Leu758= | |
| NM_014567.5:c.2361C>T MANE Select | NP_055382.2:p.Leu787= | |
| NM_001170714.3:c.2499C>T | NP_001164185.1:p.Leu833= | |
| NM_001170715.3:c.2415C>T | NP_001164186.1:p.Leu805= | |
| NM_001170716.3:c.2415C>T | NP_001164187.1:p.Leu805= | |
| NM_001170717.3:c.2415C>T | NP_001164188.1:p.Leu805= | |
| NM_001170718.3:c.2361C>T | NP_001164189.1:p.Leu787= | |
| NM_001170719.3:c.2355C>T | NP_001164190.1:p.Leu785= | |
| NM_001170720.3:c.1917C>T | NP_001164191.1:p.Leu639= | |
| NM_001170721.3:c.1731C>T | NP_001164192.1:p.Leu577= |