Linked Data
dbSNP Id:
rs10510628
gnomAD v2:
3-29853403-G-A
gnomAD v3:
3-29811912-G-A
gnomAD v4:
3-29811912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29811912G>A , CM000665.2:g.29811912G>A | GRCh38 |
| NC_000003.11:g.29853403G>A , CM000665.1:g.29853403G>A | GRCh37 |
| NC_000003.10:g.29828407G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383767.7:c.637+48923G>A MANE Select | ENSP00000373277.2:n.637+48923G>A | |
| ENST00000636680.2:c.1015+48923G>A | ENSP00000490271.2:n.1015+48923G>A | |
| ENST00000637842.1:c.884+48923G>A | ENSP00000489718.1:n.884+48923G>A | |
| ENST00000273139.13:c.637+48923G>A | ENSP00000273139.9:n.637+48923G>A | |
| ENST00000383766.6:c.634+48923G>A | ENSP00000373276.2:n.634+48923G>A | |
| ENST00000383767.6:c.637+48923G>A | ENSP00000373277.2:n.637+48923G>A | |
| ENST00000434693.6:c.634+48923G>A | ENSP00000395592.1:n.634+48923G>A | |
| ENST00000445033.5:c.637+48923G>A | ENSP00000391934.1:n.637+48923G>A | |
| ENST00000452462.5:c.637+48923G>A | ENSP00000397926.1:n.637+48923G>A | |
| ENST00000456853.1:c.637+48923G>A | ENSP00000400519.1:n.637+48923G>A | |
| ENST00000497319.1:n.67+48923G>A | ||
| NM_001003792.2:c.634+48923G>A | NP_001003792.1:n.634+48923G>A | |
| NM_001003793.2:c.637+48923G>A | NP_001003793.1:n.637+48923G>A | |
| NM_001177711.1:c.637+48923G>A | NP_001171182.1:n.637+48923G>A | |
| NM_001177712.1:c.637+48923G>A | NP_001171183.1:n.637+48923G>A | |
| NM_014483.3:c.637+48923G>A | NP_055298.2:n.637+48923G>A | |
| XM_005265060.1:c.634+48923G>A | XP_005265117.1:n.634+48923G>A | |
| XM_005265061.1:c.637+48923G>A | XP_005265118.1:n.637+48923G>A | |
| XM_005265062.1:c.637+48923G>A | XP_005265119.1:n.637+48923G>A | |
| XM_005265063.1:c.352+48923G>A | XP_005265120.1:n.352+48923G>A | |
| XM_005265064.3:c.352+48923G>A | XP_005265121.1:n.352+48923G>A | |
| XM_005265065.3:c.310+48923G>A | XP_005265122.1:n.310+48923G>A | |
| XM_011533592.1:c.637+48923G>A | XP_011531894.1:n.637+48923G>A | |
| XM_011533593.1:c.637+48923G>A | XP_011531895.1:n.637+48923G>A | |
| XM_011533594.1:c.637+48923G>A | XP_011531896.1:n.637+48923G>A | |
| NM_001330696.1:c.634+48923G>A | NP_001317625.1:n.634+48923G>A | |
| XM_005265061.2:c.637+48923G>A | XP_005265118.1:n.637+48923G>A | |
| XM_005265063.2:c.352+48923G>A | XP_005265120.1:n.352+48923G>A | |
| XM_005265065.5:c.310+48923G>A | XP_005265122.1:n.310+48923G>A | |
| XM_017006178.1:c.634+48923G>A | XP_016861667.1:n.634+48923G>A | |
| XM_017006179.1:c.634+48923G>A | XP_016861668.1:n.634+48923G>A | |
| XM_017006180.1:c.637+48923G>A | XP_016861669.1:n.637+48923G>A | |
| XM_017006181.1:c.634+48923G>A | XP_016861670.1:n.634+48923G>A | |
| XM_017006182.1:c.535+48923G>A | XP_016861671.1:n.535+48923G>A | |
| XM_024453454.1:c.637+48923G>A | XP_024309222.1:n.637+48923G>A | |
| NM_001003792.3:c.634+48923G>A | NP_001003792.1:n.634+48923G>A | |
| NM_001003793.3:c.637+48923G>A MANE Select | NP_001003793.1:n.637+48923G>A | |
| NM_001177711.2:c.637+48923G>A | NP_001171182.1:n.637+48923G>A | |
| NM_001177712.2:c.637+48923G>A | NP_001171183.1:n.637+48923G>A | |
| NM_014483.4:c.637+48923G>A | NP_055298.2:n.637+48923G>A |