Linked Data
ClinVar Variation Id:
197539
dbSNP Id:
rs768312851
ExAC:
19:13319613 G / A
gnomAD v2:
19-13319613-G-A
gnomAD v3:
19-13208799-G-A
gnomAD v4:
19-13208799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13208799G>A , CM000681.2:g.13208799G>A | GRCh38 |
| NC_000019.9:g.13319613G>A , CM000681.1:g.13319613G>A | GRCh37 |
| NC_000019.8:g.13180613G>A | NCBI36 |
| NG_011569.1:g.302662C>T , LRG_7:g.302662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6737C>T MANE Select | ENSP00000353362.5:p.Ser2246Phe | |
| ENST00000573710.7:c.6743C>T | ENSP00000460092.3:p.Ser2248Phe | |
| ENST00000585802.6:c.1862C>T | ENSP00000465598.2:p.Ser621Phe | |
| ENST00000635727.1:c.6740C>T | ENSP00000490001.1:p.Ser2247Phe | |
| ENST00000635895.1:c.6740C>T | ENSP00000490323.1:p.Ser2247Phe | |
| ENST00000636012.1:c.6704C>T | ENSP00000490223.1:p.Ser2235Phe | |
| ENST00000636389.1:c.6740C>T | ENSP00000489992.1:p.Ser2247Phe | |
| ENST00000636473.1:c.1607C>T | ENSP00000490173.1:p.Ser536Phe | |
| ENST00000636549.1:c.6746C>T | ENSP00000490578.1:p.Ser2249Phe | |
| ENST00000637276.1:c.6704C>T | ENSP00000489777.1:p.Ser2235Phe | |
| ENST00000637432.1:c.6755C>T | ENSP00000490617.1:p.Ser2252Phe | |
| ENST00000637736.1:c.6599C>T | ENSP00000489861.1:p.Ser2200Phe | |
| ENST00000637769.1:c.6740C>T | ENSP00000489778.1:p.Ser2247Phe | |
| ENST00000637927.1:c.6743C>T | ENSP00000489715.1:p.Ser2248Phe | |
| ENST00000638009.2:c.6740C>T | ENSP00000489913.1:p.Ser2247Phe | |
| ENST00000638029.1:c.6755C>T | ENSP00000489829.1:p.Ser2252Phe | |
| ENST00000664864.1:c.6941C>T | ENSP00000499449.1:p.Ser2314Phe | |
| ENST00000360228.9:c.6737C>T | ENSP00000353362.5:p.Ser2246Phe | |
| ENST00000573710.6:c.6740C>T | ENSP00000460092.2:p.Ser2247Phe | |
| ENST00000585802.5:c.2759C>T | ENSP00000465598.1:p.Ser920Phe | |
| ENST00000587525.5:c.2162C>T | ENSP00000467729.1:p.Ser721Phe | |
| ENST00000614285.4:c.6755C>T | ENSP00000479983.1:p.Ser2252Phe | |
| NM_000068.3:c.6755C>T | NP_000059.3:p.Ser2252Phe | |
| NM_001127221.1:c.6740C>T , LRG_7t1:c.6740C>T | NP_001120693.1:p.Ser2247Phe | |
| NM_001127222.1:c.6737C>T | NP_001120694.1:p.Ser2246Phe | |
| NM_001174080.1:c.6746C>T | NP_001167551.1:p.Ser2249Phe | |
| NM_023035.2:c.6755C>T | NP_075461.2:p.Ser2252Phe | |
| NM_000068.4:c.6755C>T | NP_000059.3:p.Ser2252Phe | |
| NM_001127222.2:c.6737C>T MANE Select | NP_001120694.1:p.Ser2246Phe | |
| NM_001174080.2:c.6746C>T | NP_001167551.1:p.Ser2249Phe | |
| NM_023035.3:c.6755C>T | NP_075461.2:p.Ser2252Phe | |
| NM_001127221.2:c.6740C>T | NP_001120693.1:p.Ser2247Phe |