Linked Data
ClinVar Variation Id:
290394
dbSNP Id:
rs886044439
gnomAD v3:
19-13286531-T-G
gnomAD v4:
19-13286531-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13286531T>G , CM000681.2:g.13286531T>G | GRCh38 |
| NC_000019.9:g.13397345T>G , CM000681.1:g.13397345T>G | GRCh37 |
| NC_000019.8:g.13258345T>G | NCBI36 |
| NG_011569.1:g.224930A>C , LRG_7:g.224930A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.3525A>C MANE Select | ENSP00000353362.5:p.Pro1175= | |
| ENST00000573710.7:c.3531A>C | ENSP00000460092.3:p.Pro1177= | |
| ENST00000635727.1:c.3528A>C | ENSP00000490001.1:p.Pro1176= | |
| ENST00000635786.1:n.24A>C | ||
| ENST00000635895.1:c.3528A>C | ENSP00000490323.1:p.Pro1176= | |
| ENST00000635917.1:n.17A>C | ||
| ENST00000636012.1:c.3528A>C | ENSP00000490223.1:p.Pro1176= | |
| ENST00000636389.1:c.3528A>C | ENSP00000489992.1:p.Pro1176= | |
| ENST00000636549.1:c.3528A>C | ENSP00000490578.1:p.Pro1176= | |
| ENST00000637276.1:c.3528A>C | ENSP00000489777.1:p.Pro1176= | |
| ENST00000637432.1:c.3537A>C | ENSP00000490617.1:p.Pro1179= | |
| ENST00000637736.1:c.3387A>C | ENSP00000489861.1:p.Pro1129= | |
| ENST00000637769.1:c.3528A>C | ENSP00000489778.1:p.Pro1176= | |
| ENST00000637927.1:c.3531A>C | ENSP00000489715.1:p.Pro1177= | |
| ENST00000638009.2:c.3528A>C | ENSP00000489913.1:p.Pro1176= | |
| ENST00000638029.1:c.3537A>C | ENSP00000489829.1:p.Pro1179= | |
| ENST00000664864.1:c.3723A>C | ENSP00000499449.1:p.Pro1241= | |
| ENST00000360228.9:c.3525A>C | ENSP00000353362.5:p.Pro1175= | |
| ENST00000573710.6:c.3528A>C | ENSP00000460092.2:p.Pro1176= | |
| ENST00000614285.4:c.3537A>C | ENSP00000479983.1:p.Pro1179= | |
| NM_000068.3:c.3537A>C | NP_000059.3:p.Pro1179= | |
| NM_001127221.1:c.3528A>C , LRG_7t1:c.3528A>C | NP_001120693.1:p.Pro1176= | |
| NM_001127222.1:c.3525A>C | NP_001120694.1:p.Pro1175= | |
| NM_001174080.1:c.3528A>C | NP_001167551.1:p.Pro1176= | |
| NM_023035.2:c.3537A>C | NP_075461.2:p.Pro1179= | |
| NM_000068.4:c.3537A>C | NP_000059.3:p.Pro1179= | |
| NM_001127222.2:c.3525A>C MANE Select | NP_001120694.1:p.Pro1175= | |
| NM_001174080.2:c.3528A>C | NP_001167551.1:p.Pro1176= | |
| NM_023035.3:c.3537A>C | NP_075461.2:p.Pro1179= | |
| NM_001127221.2:c.3528A>C | NP_001120693.1:p.Pro1176= |