Linked Data
ClinVar Variation Id:
452673
dbSNP Id:
rs576057388
ExAC:
19:13320306 A / C
gnomAD v2:
19-13320306-A-C
gnomAD v3:
19-13209492-A-C
gnomAD v4:
19-13209492-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13209492A>C , CM000681.2:g.13209492A>C | GRCh38 |
| NC_000019.9:g.13320306A>C , CM000681.1:g.13320306A>C | GRCh37 |
| NC_000019.8:g.13181306A>C | NCBI36 |
| NG_011569.1:g.301969T>G , LRG_7:g.301969T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6346T>G MANE Select | ENSP00000353362.5:p.Ser2116Ala | |
| ENST00000573710.7:c.6352T>G | ENSP00000460092.3:p.Ser2118Ala | |
| ENST00000585802.6:c.1471T>G | ENSP00000465598.2:p.Ser491Ala | |
| ENST00000635727.1:c.6349T>G | ENSP00000490001.1:p.Ser2117Ala | |
| ENST00000635895.1:c.6349T>G | ENSP00000490323.1:p.Ser2117Ala | |
| ENST00000636012.1:c.6313T>G | ENSP00000490223.1:p.Ser2105Ala | |
| ENST00000636389.1:c.6349T>G | ENSP00000489992.1:p.Ser2117Ala | |
| ENST00000636473.1:c.1216T>G | ENSP00000490173.1:p.Ser406Ala | |
| ENST00000636549.1:c.6355T>G | ENSP00000490578.1:p.Ser2119Ala | |
| ENST00000636610.1:n.2713T>G | ||
| ENST00000636768.1:c.840T>G | ENSP00000490190.1:n.840T>G | |
| ENST00000637276.1:c.6313T>G | ENSP00000489777.1:p.Ser2105Ala | |
| ENST00000637432.1:c.6364T>G | ENSP00000490617.1:p.Ser2122Ala | |
| ENST00000637736.1:c.6208T>G | ENSP00000489861.1:p.Ser2070Ala | |
| ENST00000637769.1:c.6349T>G | ENSP00000489778.1:p.Ser2117Ala | |
| ENST00000637927.1:c.6352T>G | ENSP00000489715.1:p.Ser2118Ala | |
| ENST00000638009.2:c.6349T>G | ENSP00000489913.1:p.Ser2117Ala | |
| ENST00000638029.1:c.6364T>G | ENSP00000489829.1:p.Ser2122Ala | |
| ENST00000664864.1:c.6550T>G | ENSP00000499449.1:p.Ser2184Ala | |
| ENST00000360228.9:c.6346T>G | ENSP00000353362.5:p.Ser2116Ala | |
| ENST00000573710.6:c.6349T>G | ENSP00000460092.2:p.Ser2117Ala | |
| ENST00000585802.5:c.2368T>G | ENSP00000465598.1:p.Ser790Ala | |
| ENST00000587525.5:c.1771T>G | ENSP00000467729.1:p.Ser591Ala | |
| ENST00000614285.4:c.6364T>G | ENSP00000479983.1:p.Ser2122Ala | |
| NM_000068.3:c.6364T>G | NP_000059.3:p.Ser2122Ala | |
| NM_001127221.1:c.6349T>G , LRG_7t1:c.6349T>G | NP_001120693.1:p.Ser2117Ala | |
| NM_001127222.1:c.6346T>G | NP_001120694.1:p.Ser2116Ala | |
| NM_001174080.1:c.6355T>G | NP_001167551.1:p.Ser2119Ala | |
| NM_023035.2:c.6364T>G | NP_075461.2:p.Ser2122Ala | |
| NM_000068.4:c.6364T>G | NP_000059.3:p.Ser2122Ala | |
| NM_001127222.2:c.6346T>G MANE Select | NP_001120694.1:p.Ser2116Ala | |
| NM_001174080.2:c.6355T>G | NP_001167551.1:p.Ser2119Ala | |
| NM_023035.3:c.6364T>G | NP_075461.2:p.Ser2122Ala | |
| NM_001127221.2:c.6349T>G | NP_001120693.1:p.Ser2117Ala |