Linked Data
dbSNP Id:
rs6703865
gnomAD v2:
1-169550963-G-A
gnomAD v3:
1-169581725-G-A
gnomAD v4:
1-169581725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169581725G>A , CM000663.2:g.169581725G>A | GRCh38 |
| NC_000001.10:g.169550963G>A , CM000663.1:g.169550963G>A | GRCh37 |
| NC_000001.9:g.167817587G>A | NCBI36 |
| NG_011806.1:g.9807C>T , LRG_553:g.9807C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.250+706C>T MANE Select | ENSP00000356771.3:n.250+706C>T | |
| ENST00000367796.3:c.250+706C>T | ENSP00000356770.3:n.250+706C>T | |
| ENST00000367797.7:c.250+706C>T | ENSP00000356771.3:n.250+706C>T | |
| NM_000130.4:c.250+706C>T , LRG_553t1:c.250+706C>T | NP_000121.2:n.250+706C>T | |
| XM_017000660.2:c.-162+4504C>T | XP_016856149.1:n.-162+4504C>T | |
| NM_000130.5:c.250+706C>T MANE Select | NP_000121.2:n.250+706C>T |