Linked Data
dbSNP Id:
rs138529893
gnomAD v2:
2-71688616-G-A
gnomAD v3:
2-71461486-G-A
gnomAD v4:
2-71461486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71461486G>A , CM000664.2:g.71461486G>A | GRCh38 |
| NC_000002.11:g.71688616G>A , CM000664.1:g.71688616G>A | GRCh37 |
| NC_000002.10:g.71542124G>A | NCBI36 |
| NG_008694.1:g.12864G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258104.8:c.88+7400G>A MANE Plus Clinical | ENSP00000258104.3:n.88+7400G>A | |
| ENST00000258104.7:c.88+7400G>A | ENSP00000258104.3:n.88+7400G>A | |
| ENST00000409582.7:c.88+7400G>A | ENSP00000386547.3:n.88+7400G>A | |
| ENST00000409762.5:c.88+7400G>A | ENSP00000387137.1:n.88+7400G>A | |
| ENST00000413539.6:c.88+7400G>A | ENSP00000407046.2:n.88+7400G>A | |
| ENST00000429174.6:c.88+7400G>A | ENSP00000398305.2:n.88+7400G>A | |
| NM_001130976.1:c.88+7400G>A | NP_001124448.1:n.88+7400G>A | |
| NM_001130977.1:c.88+7400G>A | NP_001124449.1:n.88+7400G>A | |
| NM_001130978.1:c.88+7400G>A | NP_001124450.1:n.88+7400G>A | |
| NM_001130979.1:c.88+7400G>A | NP_001124451.1:n.88+7400G>A | |
| NM_001130980.1:c.88+7400G>A | NP_001124452.1:n.88+7400G>A | |
| NM_001130981.1:c.88+7400G>A | NP_001124453.1:n.88+7400G>A | |
| NM_003494.3:c.88+7400G>A | NP_003485.1:n.88+7400G>A | |
| XM_005264585.3:c.88+7400G>A | XP_005264642.1:n.88+7400G>A | |
| XM_005264585.5:c.88+7400G>A | XP_005264642.1:n.88+7400G>A | |
| NM_001130976.2:c.88+7400G>A | NP_001124448.1:n.88+7400G>A | |
| NM_001130977.2:c.88+7400G>A | NP_001124449.1:n.88+7400G>A | |
| NM_001130978.2:c.88+7400G>A | NP_001124450.1:n.88+7400G>A | |
| NM_001130979.2:c.88+7400G>A | NP_001124451.1:n.88+7400G>A | |
| NM_001130980.2:c.88+7400G>A | NP_001124452.1:n.88+7400G>A | |
| NM_001130981.2:c.88+7400G>A | NP_001124453.1:n.88+7400G>A | |
| NM_003494.4:c.88+7400G>A MANE Plus Clinical | NP_003485.1:n.88+7400G>A |