Linked Data
ClinVar Variation Id:
328921
ClinVar RCV Id:
RCV000309409
dbSNP Id:
rs777428608
ExAC:
19:36592994 C / G
gnomAD v2:
19-36592994-C-G
gnomAD v4:
19-36102092-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102092C>G , CM000681.2:g.36102092C>G | GRCh38 |
| NC_000019.9:g.36592994C>G , CM000681.1:g.36592994C>G | GRCh37 |
| NC_000019.8:g.41284834C>G | NCBI36 |
| NG_028101.1:g.52212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3161C>G | ENSP00000270301.6:p.Pro1054Arg | |
| ENST00000401500.7:c.3161C>G MANE Select | ENSP00000384792.1:p.Pro1054Arg | |
| ENST00000587391.6:c.*2436C>G | ENSP00000465525.1:n.*2436C>G | |
| ENST00000679357.1:c.951C>G | ||
| ENST00000679422.1:c.840C>G | ||
| ENST00000679682.1:c.3146C>G | ENSP00000506226.1:p.Pro1049Arg | |
| ENST00000679714.1:c.3155C>G | ENSP00000506627.1:p.Pro1052Arg | |
| ENST00000679757.1:c.2810C>G | ENSP00000505158.1:p.Pro937Arg | |
| ENST00000679858.1:c.*2543C>G | ENSP00000505655.1:n.*2543C>G | |
| ENST00000680211.1:c.-239C>G | ENSP00000506102.1:n.-239C>G | |
| ENST00000680349.1:n.1144C>G | ||
| ENST00000680403.1:c.3161C>G | ENSP00000505677.1:p.Pro1054Arg | |
| ENST00000680564.1:c.2972-645C>G | ENSP00000505582.1:n.2972-645C>G | |
| ENST00000680590.1:c.*1556C>G | ENSP00000505350.1:n.*1556C>G | |
| ENST00000680739.1:c.79C>G | ||
| ENST00000680773.1:n.1077C>G | ||
| ENST00000680806.1:c.*1879C>G | ENSP00000506418.1:n.*1879C>G | |
| ENST00000680997.1:n.508C>G | ||
| ENST00000681088.1:c.823C>G | ||
| ENST00000681608.1:n.109C>G | ||
| ENST00000681625.1:c.*493C>G | ENSP00000505555.1:n.*493C>G | |
| ENST00000270301.11:c.3161C>G | ENSP00000270301.6:p.Pro1054Arg | |
| ENST00000401500.6:c.3161C>G | ENSP00000384792.1:p.Pro1054Arg | |
| ENST00000587391.5:c.*2436C>G | ENSP00000465525.1:n.*2436C>G | |
| NM_001083961.1:c.3161C>G | NP_001077430.1:p.Pro1054Arg | |
| NM_173636.4:c.3161C>G | NP_775907.4:p.Pro1054Arg | |
| XM_005258809.2:c.3050C>G | XP_005258866.1:p.Pro1017Arg | |
| XM_011526837.1:c.3146C>G | XP_011525139.1:p.Pro1049Arg | |
| XM_011526838.1:c.2972-645C>G | XP_011525140.1:n.2972-645C>G | |
| XM_011526839.1:c.2810C>G | XP_011525141.1:p.Pro937Arg | |
| XM_011526840.1:c.2153C>G | XP_011525142.1:p.Pro718Arg | |
| XM_011526841.1:c.1739C>G | XP_011525143.1:p.Pro580Arg | |
| XM_011526842.1:c.1592C>G | XP_011525144.1:p.Pro531Arg | |
| XM_011526843.1:c.908C>G | XP_011525145.1:p.Pro303Arg | |
| XM_011526844.1:c.908C>G | XP_011525146.1:p.Pro303Arg | |
| XM_011526840.2:c.2153C>G | XP_011525142.1:p.Pro718Arg | |
| XM_011526841.2:c.1739C>G | XP_011525143.1:p.Pro580Arg | |
| XM_011526844.2:c.908C>G | XP_011525146.1:p.Pro303Arg | |
| XM_017026665.1:c.3161C>G | XP_016882154.1:p.Pro1054Arg | |
| NM_001083961.2:c.3161C>G MANE Select | NP_001077430.1:p.Pro1054Arg | |
| NM_173636.5:c.3161C>G | NP_775907.4:p.Pro1054Arg |