Linked Data
ClinVar Variation Id:
128559
dbSNP Id:
rs201991581
ExAC:
19:13476261 C / G
gnomAD v2:
19-13476261-C-G
gnomAD v3:
19-13365447-C-G
gnomAD v4:
19-13365447-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13365447C>G , CM000681.2:g.13365447C>G | GRCh38 |
| NC_000019.9:g.13476261C>G , CM000681.1:g.13476261C>G | GRCh37 |
| NC_000019.8:g.13337261C>G | NCBI36 |
| NG_011569.1:g.146014G>C , LRG_7:g.146014G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.654G>C MANE Select | ENSP00000353362.5:p.Ser218= | |
| ENST00000573710.7:c.654G>C | ENSP00000460092.3:p.Ser218= | |
| ENST00000593160.2:n.369G>C | ||
| ENST00000635727.1:c.654G>C | ENSP00000490001.1:p.Ser218= | |
| ENST00000635895.1:c.654G>C | ENSP00000490323.1:p.Ser218= | |
| ENST00000636012.1:c.654G>C | ENSP00000490223.1:p.Ser218= | |
| ENST00000636389.1:c.654G>C | ENSP00000489992.1:p.Ser218= | |
| ENST00000636549.1:c.654G>C | ENSP00000490578.1:p.Ser218= | |
| ENST00000636966.1:n.542G>C | ||
| ENST00000636974.1:n.13G>C | ||
| ENST00000637276.1:c.654G>C | ENSP00000489777.1:p.Ser218= | |
| ENST00000637432.1:c.654G>C | ENSP00000490617.1:p.Ser218= | |
| ENST00000637736.1:c.513G>C | ENSP00000489861.1:p.Ser171= | |
| ENST00000637769.1:c.654G>C | ENSP00000489778.1:p.Ser218= | |
| ENST00000637927.1:c.654G>C | ENSP00000489715.1:p.Ser218= | |
| ENST00000637952.1:n.852G>C | ||
| ENST00000637966.1:n.507G>C | ||
| ENST00000638009.2:c.654G>C | ENSP00000489913.1:p.Ser218= | |
| ENST00000638029.1:c.654G>C | ENSP00000489829.1:p.Ser218= | |
| ENST00000664864.1:c.849G>C | ENSP00000499449.1:p.Ser283= | |
| ENST00000360228.9:c.654G>C | ENSP00000353362.5:p.Ser218= | |
| ENST00000573710.6:c.654G>C | ENSP00000460092.2:p.Ser218= | |
| ENST00000614285.4:c.654G>C | ENSP00000479983.1:p.Ser218= | |
| NM_000068.3:c.654G>C | NP_000059.3:p.Ser218= | |
| NM_001127221.1:c.654G>C , LRG_7t1:c.654G>C | NP_001120693.1:p.Ser218= | |
| NM_001127222.1:c.654G>C | NP_001120694.1:p.Ser218= | |
| NM_001174080.1:c.654G>C | NP_001167551.1:p.Ser218= | |
| NM_023035.2:c.654G>C | NP_075461.2:p.Ser218= | |
| NM_000068.4:c.654G>C | NP_000059.3:p.Ser218= | |
| NM_001127222.2:c.654G>C MANE Select | NP_001120694.1:p.Ser218= | |
| NM_001174080.2:c.654G>C | NP_001167551.1:p.Ser218= | |
| NM_023035.3:c.654G>C | NP_075461.2:p.Ser218= | |
| NM_001127221.2:c.654G>C | NP_001120693.1:p.Ser218= |