Linked Data
ClinVar Variation Id:
1700787
ClinVar RCV Id:
RCV002275771
dbSNP Id:
rs2117028700
gnomAD v4:
7-141649266-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141649266A>T , CM000669.2:g.141649266A>T | GRCh38 |
| NC_000007.13:g.141349066A>T , CM000669.1:g.141349066A>T | GRCh37 |
| NC_000007.12:g.140995535A>T | NCBI36 |
| NG_032079.1:g.102989A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*942A>T | ENSP00000497039.1:n.*942A>T | |
| ENST00000648068.1:c.979A>T | ENSP00000498112.1:p.Lys327Ter | |
| ENST00000648395.1:c.703A>T | ENSP00000497666.1:p.Lys235Ter | |
| ENST00000648489.1:n.1010A>T | ||
| ENST00000649014.1:c.*254A>T | ENSP00000497984.1:n.*254A>T | |
| ENST00000649286.2:c.979A>T MANE Select | ENSP00000497280.1:p.Lys327Ter | |
| ENST00000649365.1:c.*987A>T | ENSP00000496835.1:n.*987A>T | |
| ENST00000649790.1:c.*415A>T | ENSP00000498193.1:n.*415A>T | |
| ENST00000649914.1:c.967A>T | ENSP00000497848.1:p.Lys323Ter | |
| ENST00000650006.1:c.979A>T | ENSP00000497457.1:p.Lys327Ter | |
| ENST00000650365.1:c.*864A>T | ENSP00000497358.1:n.*864A>T | |
| ENST00000650547.1:c.979A>T | ENSP00000496789.1:p.Lys327Ter | |
| ENST00000355413.8:c.979A>T | ENSP00000347581.4:p.Lys327Ter | |
| ENST00000473247.5:c.895A>T | ENSP00000420776.1:p.Lys299Ter | |
| ENST00000494053.1:n.136A>T | ||
| ENST00000494688.1:c.*84A>T | ENSP00000418101.1:n.*84A>T | |
| ENST00000629555.2:c.*84A>T | ENSP00000487274.1:n.*84A>T | |
| NM_018238.3:c.979A>T | NP_060708.1:p.Lys327Ter | |
| XM_005250023.3:c.979A>T | XP_005250080.1:p.Lys327Ter | |
| XM_011516397.1:c.979A>T | XP_011514699.1:p.Lys327Ter | |
| NM_001364948.1:c.979A>T | NP_001351877.1:p.Lys327Ter | |
| NM_018238.4:c.979A>T MANE Select | NP_060708.1:p.Lys327Ter | |
| XM_011516397.3:c.979A>T | XP_011514699.1:p.Lys327Ter | |
| XM_024446835.1:c.979A>T | XP_024302603.1:p.Lys327Ter | |
| NM_001364948.2:c.979A>T | NP_001351877.1:p.Lys327Ter | |
| NM_001364948.3:c.979A>T | NP_001351877.1:p.Lys327Ter |