Linked Data
dbSNP Id:
rs483223
gnomAD v2:
6-117620363-G-A
gnomAD v3:
6-117299200-G-A
gnomAD v4:
6-117299200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117299200G>A , CM000668.2:g.117299200G>A | GRCh38 |
| NC_000006.11:g.117620363G>A , CM000668.1:g.117620363G>A | GRCh37 |
| NC_000006.10:g.117727056G>A | NCBI36 |
| NG_033929.1:g.131656C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368507.8:c.6715+1774C>T MANE Select | ENSP00000357493.3:n.6715+1774C>T | |
| ENST00000368507.7:c.6715+1774C>T | ENSP00000357493.3:n.6715+1774C>T | |
| ENST00000368508.7:c.6733+1774C>T | ENSP00000357494.3:n.6733+1774C>T | |
| NM_002944.2:c.6733+1774C>T | NP_002935.2:n.6733+1774C>T | |
| XM_006715548.2:c.6718+1774C>T | XP_006715611.1:n.6718+1774C>T | |
| XM_011536049.1:c.6763+1774C>T | XP_011534351.1:n.6763+1774C>T | |
| XM_011536050.1:c.6760+1774C>T | XP_011534352.1:n.6760+1774C>T | |
| XM_011536051.1:c.6736+1774C>T | XP_011534353.1:n.6736+1774C>T | |
| XM_011536052.1:c.6721+1774C>T | XP_011534354.1:n.6721+1774C>T | |
| XM_011536053.1:c.6589+1774C>T | XP_011534355.1:n.6589+1774C>T | |
| XM_011536054.1:c.6599+9594C>T | XP_011534356.1:n.6599+9594C>T | |
| XM_006715548.4:c.6718+1774C>T | XP_006715611.1:n.6718+1774C>T | |
| XM_011536049.2:c.6763+1774C>T | XP_011534351.1:n.6763+1774C>T | |
| XM_011536050.2:c.6760+1774C>T | XP_011534352.1:n.6760+1774C>T | |
| XM_011536051.2:c.6736+1774C>T | XP_011534353.1:n.6736+1774C>T | |
| XM_011536052.2:c.6721+1774C>T | XP_011534354.1:n.6721+1774C>T | |
| XM_011536053.2:c.6589+1774C>T | XP_011534355.1:n.6589+1774C>T | |
| XM_011536054.2:c.6599+9594C>T | XP_011534356.1:n.6599+9594C>T | |
| XM_017011172.1:c.6694+1774C>T | XP_016866661.1:n.6694+1774C>T | |
| XM_017011173.1:c.6691+1774C>T | XP_016866662.1:n.6691+1774C>T | |
| NM_001378891.1:c.6721+1774C>T | NP_001365820.1:n.6721+1774C>T | |
| NM_001378902.1:c.6715+1774C>T MANE Select | NP_001365831.1:n.6715+1774C>T | |
| NM_002944.3:c.6733+1774C>T | NP_002935.2:n.6733+1774C>T |