Linked Data
dbSNP Id:
rs2195450
gnomAD v2:
5-152871009-G-A
gnomAD v3:
5-153491449-G-A
gnomAD v4:
5-153491449-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.153491449G>A , CM000667.2:g.153491449G>A | GRCh38 |
| NC_000005.9:g.152871009G>A , CM000667.1:g.152871009G>A | GRCh37 |
| NC_000005.8:g.152851202G>A | NCBI36 |
| NG_047078.1:g.6754G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340592.10:c.82+479G>A | ENSP00000339343.5:n.82+479G>A | |
| ENST00000520353.6:c.-126+479G>A | ENSP00000516539.1:n.-126+479G>A | |
| ENST00000706733.1:c.82+479G>A | ENSP00000516520.1:n.82+479G>A | |
| ENST00000706734.1:c.24+117G>A | ENSP00000516521.1:n.24+117G>A | |
| ENST00000706767.1:c.82+479G>A | ENSP00000516540.1:n.82+479G>A | |
| ENST00000285900.10:c.82+479G>A MANE Select | ENSP00000285900.4:n.82+479G>A | |
| ENST00000285900.9:c.82+479G>A | ENSP00000285900.4:n.82+479G>A | |
| ENST00000340592.9:c.82+479G>A | ENSP00000339343.5:n.82+479G>A | |
| ENST00000474198.1:n.327+479G>A | ||
| ENST00000481559.6:n.223+1612G>A | ||
| ENST00000517469.1:n.136+117G>A | ||
| ENST00000518142.5:c.82+479G>A | ENSP00000427920.1:n.82+479G>A | |
| ENST00000518862.5:n.30+938G>A | ||
| ENST00000520353.5:n.224+479G>A | ||
| ENST00000521843.6:c.-126+117G>A | ENSP00000427864.2:n.-126+117G>A | |
| NM_000827.3:c.82+479G>A | NP_000818.2:n.82+479G>A | |
| NM_001114183.1:c.82+479G>A | NP_001107655.1:n.82+479G>A | |
| NM_001258019.1:c.82+479G>A | NP_001244948.1:n.82+479G>A | |
| NM_001258020.1:c.-261+479G>A | NP_001244949.1:n.-261+479G>A | |
| NM_001258023.1:c.-126+117G>A | NP_001244952.1:n.-126+117G>A | |
| NR_047578.1:n.447+479G>A | ||
| XM_011537635.1:c.22+1612G>A | XP_011535937.1:n.22+1612G>A | |
| XR_427776.2:n.352+479G>A | ||
| NM_001364165.1:c.82+479G>A | NP_001351094.1:n.82+479G>A | |
| NM_001364166.1:c.24+117G>A | NP_001351095.1:n.24+117G>A | |
| NM_001364167.1:c.-126+117G>A | NP_001351096.1:n.-126+117G>A | |
| NR_157093.1:n.301+479G>A | ||
| NM_000827.4:c.82+479G>A MANE Select | NP_000818.2:n.82+479G>A | |
| NM_001114183.2:c.82+479G>A | NP_001107655.1:n.82+479G>A | |
| NM_001258019.2:c.82+479G>A | NP_001244948.1:n.82+479G>A | |
| NM_001258020.2:c.-261+479G>A | NP_001244949.1:n.-261+479G>A | |
| NM_001364165.2:c.82+479G>A | NP_001351094.1:n.82+479G>A | |
| NM_001364166.2:c.24+117G>A | NP_001351095.1:n.24+117G>A | |
| NM_001364167.2:c.-126+117G>A | NP_001351096.1:n.-126+117G>A | |
| NR_047578.2:n.301+479G>A | ||
| NR_157093.2:n.301+479G>A |