Linked Data
dbSNP Id:
rs6774494
gnomAD v2:
3-169082633-G-A
gnomAD v3:
3-169364845-G-A
gnomAD v4:
3-169364845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169364845G>A , CM000665.2:g.169364845G>A | GRCh38 |
| NC_000003.11:g.169082633G>A , CM000665.1:g.169082633G>A | GRCh37 |
| NC_000003.10:g.170565327G>A | NCBI36 |
| NG_028279.1:g.303931C>T | |
| NG_028279.2:g.303931C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494292.6:c.375+16342C>T | ENSP00000417899.1:n.375+16342C>T | |
| ENST00000651503.2:c.375+16342C>T MANE Select | ENSP00000498411.1:n.375+16342C>T | |
| ENST00000485957.1:n.621+16342C>T | ||
| ENST00000494292.5:c.375+16342C>T | ENSP00000417899.1:n.375+16342C>T | |
| NM_001205194.1:c.-189-221013C>T | NP_001192123.1:n.-189-221013C>T | |
| NM_004991.3:c.375+16342C>T | NP_004982.2:n.375+16342C>T | |
| XM_005247213.2:c.375+16342C>T | XP_005247270.1:n.375+16342C>T | |
| XM_005247214.2:c.375+16342C>T | XP_005247271.1:n.375+16342C>T | |
| XM_005247215.2:c.375+16342C>T | XP_005247272.1:n.375+16342C>T | |
| XM_005247224.2:c.375+16342C>T | XP_005247281.1:n.375+16342C>T | |
| XM_005247225.2:c.375+16342C>T | XP_005247282.1:n.375+16342C>T | |
| XM_005247226.2:c.375+16342C>T | XP_005247283.1:n.375+16342C>T | |
| NM_001366466.1:c.375+16342C>T | NP_001353395.1:n.375+16342C>T | |
| NM_001366473.1:c.375+16342C>T | NP_001353402.1:n.375+16342C>T | |
| XM_005247213.3:c.375+16342C>T | XP_005247270.1:n.375+16342C>T | |
| XM_005247214.3:c.375+16342C>T | XP_005247271.1:n.375+16342C>T | |
| XM_005247224.3:c.375+16342C>T | XP_005247281.1:n.375+16342C>T | |
| XM_005247225.4:c.375+16342C>T | XP_005247282.1:n.375+16342C>T | |
| XM_017005877.1:c.375+16342C>T | XP_016861366.1:n.375+16342C>T | |
| NM_001205194.2:c.-189-221013C>T | NP_001192123.1:n.-189-221013C>T | |
| NM_001366466.2:c.375+16342C>T | NP_001353395.1:n.375+16342C>T | |
| NM_001366473.2:c.375+16342C>T | NP_001353402.1:n.375+16342C>T | |
| NM_004991.4:c.375+16342C>T MANE Select | NP_004982.2:n.375+16342C>T |