Linked Data
dbSNP Id:
rs776173594
ExAC:
19:36223541 A / C
gnomAD v2:
19-36223541-A-C
gnomAD v3:
19-35732640-A-C
gnomAD v4:
19-35732640-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732640A>C , CM000681.2:g.35732640A>C | GRCh38 |
| NC_000019.9:g.36223541A>C , CM000681.1:g.36223541A>C | GRCh37 |
| NC_000019.8:g.40915381A>C | NCBI36 |
| NG_052906.1:g.19622A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.397A>C | ||
| ENST00000673918.2:c.6025A>C | ENSP00000501283.1:p.Thr2009Pro | |
| ENST00000674114.2:c.3632A>C | ENSP00000501039.2:n.3632A>C | |
| ENST00000684977.1:c.1309A>C | ENSP00000509384.1:p.Thr437Pro | |
| ENST00000689544.1:n.1244A>C | ||
| ENST00000691421.1:c.1312A>C | ENSP00000508674.1:p.Thr438Pro | |
| ENST00000691855.1:c.5633A>C | ||
| ENST00000692961.1:c.6091A>C | ENSP00000509289.1:p.Thr2031Pro | |
| ENST00000693677.1:c.704+311A>C | ENSP00000509779.1:n.704+311A>C | |
| ENST00000420124.4:c.6091A>C MANE Select | ENSP00000398837.2:p.Thr2031Pro | |
| ENST00000673918.1:c.6025A>C | ENSP00000501283.1:p.Thr2009Pro | |
| ENST00000674114.1:c.3413A>C | ||
| ENST00000420124.2:c.6091A>C | ENSP00000398837.1:p.Thr2031Pro | |
| NM_014727.2:c.6091A>C | NP_055542.1:p.Thr2031Pro | |
| XM_011527561.1:c.6025A>C | XP_011525863.1:p.Thr2009Pro | |
| XM_011527562.1:c.6091A>C | XP_011525864.1:p.Thr2031Pro | |
| XM_011527563.1:c.5815A>C | XP_011525865.1:p.Thr1939Pro | |
| XM_011527561.2:c.5527A>C | XP_011525863.2:p.Thr1843Pro | |
| XM_011527562.2:c.6091A>C | XP_011525864.1:p.Thr2031Pro | |
| XM_017027544.1:c.6091A>C | XP_016883033.1:p.Thr2031Pro | |
| XM_017027545.1:c.5527A>C | XP_016883034.1:p.Thr1843Pro | |
| XM_017027546.1:c.3055A>C | XP_016883035.1:p.Thr1019Pro | |
| NM_014727.3:c.6091A>C MANE Select | NP_055542.1:p.Thr2031Pro |