Linked Data
dbSNP Id:
rs12133641
gnomAD v2:
1-154428283-A-G
gnomAD v3:
1-154455807-A-G
gnomAD v4:
1-154455807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154455807A>G , CM000663.2:g.154455807A>G | GRCh38 |
| NC_000001.10:g.154428283A>G , CM000663.1:g.154428283A>G | GRCh37 |
| NC_000001.9:g.152694907A>G | NCBI36 |
| NG_012087.1:g.55615A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368485.8:c.1160+1226A>G MANE Select | ENSP00000357470.3:n.1160+1226A>G | |
| ENST00000344086.8:c.1066+5827A>G | ENSP00000340589.4:n.1066+5827A>G | |
| ENST00000368485.7:c.1160+1226A>G | ENSP00000357470.3:n.1160+1226A>G | |
| ENST00000502679.1:n.473+1226A>G | ||
| ENST00000507256.1:n.358+1226A>G | ||
| NM_000565.3:c.1160+1226A>G | NP_000556.1:n.1160+1226A>G | |
| NM_181359.2:c.1066+5827A>G | NP_852004.1:n.1066+5827A>G | |
| XM_005245139.1:c.924+5827A>G | XP_005245196.1:n.924+5827A>G | |
| XM_005245140.1:c.*1+1226A>G | XP_005245197.1:n.*1+1226A>G | |
| XM_006711298.1:c.1208+1226A>G | XP_006711361.1:n.1208+1226A>G | |
| XM_006711299.2:c.1114+5827A>G | XP_006711362.1:n.1114+5827A>G | |
| XM_005245139.2:c.924+5827A>G | XP_005245196.1:n.924+5827A>G | |
| XM_005245140.3:c.*1+1226A>G | XP_005245197.1:n.*1+1226A>G | |
| XM_006711298.2:c.1208+1226A>G | XP_006711361.1:n.1208+1226A>G | |
| XM_006711299.4:c.1114+5827A>G | XP_006711362.1:n.1114+5827A>G | |
| XM_017001199.2:c.1307+1226A>G | XP_016856688.1:n.1307+1226A>G | |
| XM_017001200.2:c.1259+1226A>G | XP_016856689.1:n.1259+1226A>G | |
| XM_017001201.2:c.*1+1226A>G | XP_016856690.1:n.*1+1226A>G | |
| NM_000565.4:c.1160+1226A>G MANE Select | NP_000556.1:n.1160+1226A>G | |
| NM_181359.3:c.1066+5827A>G | NP_852004.1:n.1066+5827A>G | |
| NM_001382769.1:c.1259+1226A>G | NP_001369698.1:n.1259+1226A>G | |
| NM_001382770.1:c.1253+1226A>G | NP_001369699.1:n.1253+1226A>G | |
| NM_001382771.1:c.1208+1226A>G | NP_001369700.1:n.1208+1226A>G | |
| NM_001382772.1:c.1154+1226A>G | NP_001369701.1:n.1154+1226A>G | |
| NM_001382773.1:c.1114+5827A>G | NP_001369702.1:n.1114+5827A>G | |
| NM_001382774.1:c.800+1226A>G | NP_001369703.1:n.800+1226A>G |