Linked Data
dbSNP Id:
rs767356787
ExAC:
4:1807173 C / A
gnomAD v2:
4-1807173-C-A
gnomAD v4:
4-1805446-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1805446C>A , CM000666.2:g.1805446C>A | GRCh38 |
| NC_000004.11:g.1807173C>A , CM000666.1:g.1807173C>A | GRCh37 |
| NC_000004.10:g.1776971C>A | NCBI36 |
| NG_012632.1:g.17135C>A , LRG_1021:g.17135C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1510C>A | ENSP00000339824.4:p.Pro504Thr | |
| ENST00000260795.8:c.*560C>A | ENSP00000260795.3:n.*560C>A | |
| ENST00000352904.6:c.1168C>A | ENSP00000231803.1:p.Pro390Thr | |
| ENST00000412135.7:c.1492C>A | ENSP00000412903.3:p.Pro498Thr | |
| ENST00000440486.8:c.1504C>A MANE Select | ENSP00000414914.2:p.Pro502Thr | |
| ENST00000481110.7:c.1507C>A | ENSP00000420533.2:p.Pro503Thr | |
| ENST00000260795.6:c.1504C>A | ENSP00000260795.2:p.Pro502Thr | |
| ENST00000340107.8:c.1510C>A | ENSP00000339824.4:p.Pro504Thr | |
| ENST00000352904.5:c.1168C>A | ENSP00000231803.1:p.Pro390Thr | |
| ENST00000412135.6:c.1168C>A | ENSP00000412903.2:p.Pro390Thr | |
| ENST00000440486.6:c.1504C>A | ENSP00000414914.2:p.Pro502Thr | |
| ENST00000469068.1:n.570C>A | ||
| ENST00000481110.6:c.1507C>A | ENSP00000420533.2:p.Pro503Thr | |
| ENST00000613647.4:c.*560C>A | ENSP00000479472.1:n.*560C>A | |
| NM_000142.4:c.1504C>A , LRG_1021t1:c.1504C>A | NP_000133.1:p.Pro502Thr | |
| NM_001163213.1:c.1510C>A , LRG_1021t2:c.1510C>A | NP_001156685.1:p.Pro504Thr | |
| NM_022965.3:c.1168C>A | NP_075254.1:p.Pro390Thr | |
| XM_006713868.1:c.1516C>A | XP_006713931.1:p.Pro506Thr | |
| XM_006713869.1:c.1516C>A | XP_006713932.1:p.Pro506Thr | |
| XM_006713870.1:c.1513C>A | XP_006713933.1:p.Pro505Thr | |
| XM_006713871.1:c.1510C>A | XP_006713934.1:p.Pro504Thr | |
| XM_006713872.1:c.1507C>A | XP_006713935.1:p.Pro503Thr | |
| XM_006713873.1:c.1504C>A | XP_006713936.1:p.Pro502Thr | |
| XM_011513420.1:c.1510C>A | XP_011511722.1:p.Pro504Thr | |
| XM_011513422.1:c.1507C>A | XP_011511724.1:p.Pro503Thr | |
| NM_001354809.1:c.1507C>A | NP_001341738.1:p.Pro503Thr | |
| NM_001354810.1:c.1507C>A | NP_001341739.1:p.Pro503Thr | |
| NR_148971.1:n.1911C>A | ||
| NM_001354809.2:c.1507C>A | NP_001341738.1:p.Pro503Thr | |
| NM_001354810.2:c.1507C>A | NP_001341739.1:p.Pro503Thr | |
| NR_148971.2:n.1930C>A | ||
| NM_000142.5:c.1504C>A MANE Select | NP_000133.1:p.Pro502Thr | |
| NM_001163213.2:c.1510C>A | NP_001156685.1:p.Pro504Thr | |
| NM_022965.4:c.1168C>A | NP_075254.1:p.Pro390Thr |