Linked Data
ClinVar Variation Id:
386049
dbSNP Id:
rs201192380
ExAC:
7:141349043 A / G
gnomAD v2:
7-141349043-A-G
gnomAD v3:
7-141649243-A-G
gnomAD v4:
7-141649243-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141649243A>G , CM000669.2:g.141649243A>G | GRCh38 |
| NC_000007.13:g.141349043A>G , CM000669.1:g.141349043A>G | GRCh37 |
| NC_000007.12:g.140995512A>G | NCBI36 |
| NG_032079.1:g.102966A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*939-20A>G | ENSP00000497039.1:n.*939-20A>G | |
| ENST00000648068.1:c.976-20A>G | ENSP00000498112.1:n.976-20A>G | |
| ENST00000648395.1:c.700-20A>G | ENSP00000497666.1:n.700-20A>G | |
| ENST00000648489.1:n.1007-20A>G | ||
| ENST00000649014.1:c.*251-20A>G | ENSP00000497984.1:n.*251-20A>G | |
| ENST00000649286.2:c.976-20A>G MANE Select | ENSP00000497280.1:n.976-20A>G | |
| ENST00000649365.1:c.*984-20A>G | ENSP00000496835.1:n.*984-20A>G | |
| ENST00000649790.1:c.*412-20A>G | ENSP00000498193.1:n.*412-20A>G | |
| ENST00000649914.1:c.964-20A>G | ENSP00000497848.1:n.964-20A>G | |
| ENST00000650006.1:c.976-20A>G | ENSP00000497457.1:n.976-20A>G | |
| ENST00000650365.1:c.*861-20A>G | ENSP00000497358.1:n.*861-20A>G | |
| ENST00000650547.1:c.976-20A>G | ENSP00000496789.1:n.976-20A>G | |
| ENST00000355413.8:c.976-20A>G | ENSP00000347581.4:n.976-20A>G | |
| ENST00000473247.5:c.892-20A>G | ENSP00000420776.1:n.892-20A>G | |
| ENST00000494053.1:n.113A>G | ||
| ENST00000494688.1:c.*81-20A>G | ENSP00000418101.1:n.*81-20A>G | |
| ENST00000629555.2:c.*81-20A>G | ENSP00000487274.1:n.*81-20A>G | |
| NM_018238.3:c.976-20A>G | NP_060708.1:n.976-20A>G | |
| XM_005250023.3:c.976-20A>G | XP_005250080.1:n.976-20A>G | |
| XM_011516397.1:c.976-20A>G | XP_011514699.1:n.976-20A>G | |
| NM_001364948.1:c.976-20A>G | NP_001351877.1:n.976-20A>G | |
| NM_018238.4:c.976-20A>G MANE Select | NP_060708.1:n.976-20A>G | |
| XM_011516397.3:c.976-20A>G | XP_011514699.1:n.976-20A>G | |
| XM_024446835.1:c.976-20A>G | XP_024302603.1:n.976-20A>G | |
| NM_001364948.2:c.976-20A>G | NP_001351877.1:n.976-20A>G | |
| NM_001364948.3:c.976-20A>G | NP_001351877.1:n.976-20A>G |