Linked Data
dbSNP Id:
rs2637988
gnomAD v2:
2-113876779-G-A
gnomAD v3:
2-113119202-G-A
gnomAD v4:
2-113119202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113119202G>A , CM000664.2:g.113119202G>A | GRCh38 |
| NC_000002.11:g.113876779G>A , CM000664.1:g.113876779G>A | GRCh37 |
| NC_000002.10:g.113593250G>A | NCBI36 |
| NG_021240.1:g.6310G>A , LRG_188:g.6310G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.-272-864G>A | ENSP00000387210.1:n.-272-864G>A | |
| ENST00000465812.6:n.776-864G>A | ||
| ENST00000696881.1:c.-272-864G>A | ENSP00000512949.1:n.-272-864G>A | |
| ENST00000259206.9:c.11-864G>A | ENSP00000259206.5:n.11-864G>A | |
| ENST00000354115.6:c.10+1174G>A | ENSP00000329072.3:n.10+1174G>A | |
| ENST00000361779.7:c.-210+1174G>A | ENSP00000354816.3:n.-210+1174G>A | |
| ENST00000409052.5:c.-272-864G>A | ENSP00000387210.1:n.-272-864G>A | |
| ENST00000486167.1:n.48+1174G>A | ||
| NM_000577.4:c.10+1174G>A | NP_000568.1:n.10+1174G>A | |
| NM_173841.2:c.11-864G>A , LRG_188t1:c.11-864G>A | NP_776213.1:n.11-864G>A | |
| NM_173843.2:c.-210+1174G>A | NP_776215.1:n.-210+1174G>A | |
| XM_006712497.2:c.-272-864G>A | XP_006712560.1:n.-272-864G>A | |
| XM_011511121.1:c.-272-864G>A | XP_011509423.1:n.-272-864G>A | |
| NM_001318914.1:c.-272-864G>A | NP_001305843.1:n.-272-864G>A | |
| NM_000577.5:c.10+1174G>A | NP_000568.1:n.10+1174G>A | |
| NM_001318914.2:c.-272-864G>A | NP_001305843.1:n.-272-864G>A | |
| NM_173843.3:c.-210+1174G>A | NP_776215.1:n.-210+1174G>A | |
| NM_173841.3:c.11-864G>A | NP_776213.1:n.11-864G>A |