Linked Data
dbSNP Id:
rs1127687
gnomAD v2:
10-115490109-G-A
gnomAD v3:
10-113730350-G-A
gnomAD v4:
10-113730350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113730350G>A , CM000672.2:g.113730350G>A | GRCh38 |
| NC_000010.10:g.115490109G>A , CM000672.1:g.115490109G>A | GRCh37 |
| NC_000010.9:g.115480099G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369318.8:c.*810G>A MANE Select | ENSP00000358324.4:n.*810G>A | |
| ENST00000672138.1:c.*810G>A | ENSP00000500735.1:n.*810G>A | |
| ENST00000345633.8:c.*810G>A | ENSP00000298701.7:n.*810G>A | |
| ENST00000369315.5:c.*810G>A | ENSP00000358321.1:n.*810G>A | |
| ENST00000369318.7:c.*810G>A | ENSP00000358324.3:n.*810G>A | |
| ENST00000369321.6:c.*810G>A | ENSP00000358327.3:n.*810G>A | |
| ENST00000369331.8:c.*926G>A | ENSP00000358337.3:n.*926G>A | |
| ENST00000452490.3:c.*810G>A | ENSP00000398107.2:n.*810G>A | |
| ENST00000614447.4:c.*926G>A | ENSP00000478285.1:n.*926G>A | |
| ENST00000621345.4:c.*810G>A | ENSP00000480584.1:n.*810G>A | |
| ENST00000621607.4:c.1821G>A | ENSP00000478999.1:n.1821G>A | |
| NM_001227.4:c.*810G>A | NP_001218.1:n.*810G>A | |
| NM_001267056.1:c.*810G>A | NP_001253985.1:n.*810G>A | |
| NM_001267057.1:c.*810G>A | NP_001253986.1:n.*810G>A | |
| NM_001267058.1:c.*810G>A | NP_001253987.1:n.*810G>A | |
| NM_033338.5:c.*810G>A | NP_203124.1:n.*810G>A | |
| NM_033339.4:c.*810G>A | NP_203125.1:n.*810G>A | |
| NM_033340.3:c.*926G>A | NP_203126.1:n.*926G>A | |
| XM_006718017.2:c.*810G>A | XP_006718080.1:n.*810G>A | |
| XM_006718018.1:c.*810G>A | XP_006718081.1:n.*810G>A | |
| XM_011540259.1:c.*810G>A | XP_011538561.1:n.*810G>A | |
| XM_011540260.1:c.*810G>A | XP_011538562.1:n.*810G>A | |
| NM_001320911.1:c.*810G>A | NP_001307840.1:n.*810G>A | |
| XM_006718017.3:c.*810G>A | XP_006718080.1:n.*810G>A | |
| XM_017016763.1:c.*810G>A | XP_016872252.1:n.*810G>A | |
| XM_017016764.1:c.*810G>A | XP_016872253.1:n.*810G>A | |
| NM_001227.5:c.*810G>A MANE Select | NP_001218.1:n.*810G>A | |
| NM_001320911.2:c.*810G>A | NP_001307840.1:n.*810G>A | |
| NM_033338.6:c.*810G>A | NP_203124.1:n.*810G>A | |
| NM_033339.5:c.*810G>A | NP_203125.1:n.*810G>A | |
| NM_033340.4:c.*926G>A | NP_203126.1:n.*926G>A | |
| NM_001267056.2:c.*810G>A | NP_001253985.1:n.*810G>A | |
| NM_001267058.2:c.*810G>A | NP_001253987.1:n.*810G>A |