Linked Data
ClinVar Variation Id:
214072
ClinVar RCV Id:
RCV000198534
dbSNP Id:
rs863223894
gnomAD v2:
7-141351326-A-G
gnomAD v4:
7-141651526-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141651526A>G , CM000669.2:g.141651526A>G | GRCh38 |
| NC_000007.13:g.141351326A>G , CM000669.1:g.141351326A>G | GRCh37 |
| NC_000007.12:g.140997795A>G | NCBI36 |
| NG_032079.1:g.105249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*1011A>G | ENSP00000497039.1:n.*1011A>G | |
| ENST00000648068.1:c.1048A>G | ENSP00000498112.1:p.Ser350Gly | |
| ENST00000648395.1:c.772A>G | ENSP00000497666.1:p.Ser258Gly | |
| ENST00000649014.1:c.*323A>G | ENSP00000497984.1:n.*323A>G | |
| ENST00000649286.2:c.1048A>G MANE Select | ENSP00000497280.1:p.Ser350Gly | |
| ENST00000649365.1:c.*1056A>G | ENSP00000496835.1:n.*1056A>G | |
| ENST00000649790.1:c.*484A>G | ENSP00000498193.1:n.*484A>G | |
| ENST00000649914.1:c.1036A>G | ENSP00000497848.1:p.Ser346Gly | |
| ENST00000650365.1:c.*933A>G | ENSP00000497358.1:n.*933A>G | |
| ENST00000650547.1:c.1048A>G | ENSP00000496789.1:p.Ser350Gly | |
| ENST00000355413.8:c.1048A>G | ENSP00000347581.4:p.Ser350Gly | |
| ENST00000473247.5:c.964A>G | ENSP00000420776.1:p.Ser322Gly | |
| ENST00000494053.1:n.205A>G | ||
| ENST00000494688.1:c.*153A>G | ENSP00000418101.1:n.*153A>G | |
| ENST00000629555.2:c.*153A>G | ENSP00000487274.1:n.*153A>G | |
| NM_018238.3:c.1048A>G | NP_060708.1:p.Ser350Gly | |
| XM_011516397.1:c.1048A>G | XP_011514699.1:p.Ser350Gly | |
| NM_018238.4:c.1048A>G MANE Select | NP_060708.1:p.Ser350Gly | |
| XM_011516397.3:c.1048A>G | XP_011514699.1:p.Ser350Gly | |
| XM_024446835.1:c.1048A>G | XP_024302603.1:p.Ser350Gly |