Linked Data
dbSNP Id:
rs200738311
ExAC:
19:36593868 T / A
gnomAD v2:
19-36593868-T-A
gnomAD v3:
19-36102966-T-A
gnomAD v4:
19-36102966-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102966T>A , CM000681.2:g.36102966T>A | GRCh38 |
| NC_000019.9:g.36593868T>A , CM000681.1:g.36593868T>A | GRCh37 |
| NC_000019.8:g.41285708T>A | NCBI36 |
| NG_028101.1:g.53086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3339T>A | ENSP00000270301.6:p.Pro1113= | |
| ENST00000401500.7:c.3354T>A MANE Select | ENSP00000384792.1:p.Pro1118= | |
| ENST00000587391.6:c.*3214T>A | ENSP00000465525.1:n.*3214T>A | |
| ENST00000679357.1:c.1434T>A | ||
| ENST00000679598.1:c.119T>A | ||
| ENST00000679682.1:c.3339T>A | ENSP00000506226.1:p.Pro1113= | |
| ENST00000679714.1:c.3348T>A | ENSP00000506627.1:p.Pro1116= | |
| ENST00000679757.1:c.3003T>A | ENSP00000505158.1:p.Pro1001= | |
| ENST00000679858.1:c.*2736T>A | ENSP00000505655.1:n.*2736T>A | |
| ENST00000680211.1:c.-46T>A | ENSP00000506102.1:n.-46T>A | |
| ENST00000680280.1:n.641T>A | ||
| ENST00000680349.1:n.1922T>A | ||
| ENST00000680403.1:c.3339T>A | ENSP00000505677.1:p.Pro1113= | |
| ENST00000680564.1:c.3105T>A | ENSP00000505582.1:p.Pro1035= | |
| ENST00000680590.1:c.*1734T>A | ENSP00000505350.1:n.*1734T>A | |
| ENST00000680597.1:c.119T>A | ||
| ENST00000680739.1:c.369T>A | ||
| ENST00000680773.1:n.1855T>A | ||
| ENST00000680806.1:c.*2657T>A | ENSP00000506418.1:n.*2657T>A | |
| ENST00000680997.1:n.1286T>A | ||
| ENST00000681608.1:n.983T>A | ||
| ENST00000681625.1:c.*686T>A | ENSP00000505555.1:n.*686T>A | |
| ENST00000681648.1:n.653T>A | ||
| ENST00000270301.11:c.3339T>A | ENSP00000270301.6:p.Pro1113= | |
| ENST00000401500.6:c.3354T>A | ENSP00000384792.1:p.Pro1118= | |
| ENST00000587391.5:c.*3214T>A | ENSP00000465525.1:n.*3214T>A | |
| NM_001083961.1:c.3354T>A | NP_001077430.1:p.Pro1118= | |
| NM_173636.4:c.3339T>A | NP_775907.4:p.Pro1113= | |
| XM_005258809.2:c.3243T>A | XP_005258866.1:p.Pro1081= | |
| XM_011526837.1:c.3339T>A | XP_011525139.1:p.Pro1113= | |
| XM_011526838.1:c.3105T>A | XP_011525140.1:p.Pro1035= | |
| XM_011526839.1:c.3003T>A | XP_011525141.1:p.Pro1001= | |
| XM_011526840.1:c.2346T>A | XP_011525142.1:p.Pro782= | |
| XM_011526841.1:c.1932T>A | XP_011525143.1:p.Pro644= | |
| XM_011526842.1:c.1785T>A | XP_011525144.1:p.Pro595= | |
| XM_011526843.1:c.1101T>A | XP_011525145.1:p.Pro367= | |
| XM_011526844.1:c.1101T>A | XP_011525146.1:p.Pro367= | |
| XM_011526840.2:c.2346T>A | XP_011525142.1:p.Pro782= | |
| XM_011526841.2:c.1932T>A | XP_011525143.1:p.Pro644= | |
| XM_011526844.2:c.1101T>A | XP_011525146.1:p.Pro367= | |
| XM_017026665.1:c.3354T>A | XP_016882154.1:p.Pro1118= | |
| NM_001083961.2:c.3354T>A MANE Select | NP_001077430.1:p.Pro1118= | |
| NM_173636.5:c.3339T>A | NP_775907.4:p.Pro1113= |