Linked Data
dbSNP Id:
rs10070303
gnomAD v2:
5-177840382-C-T
gnomAD v3:
5-178413381-C-T
gnomAD v4:
5-178413381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178413381C>T , CM000667.2:g.178413381C>T | GRCh38 |
| NC_000005.9:g.177840382C>T , CM000667.1:g.177840382C>T | GRCh37 |
| NC_000005.8:g.177772988C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000390654.8:c.362-106462G>A MANE Select | ENSP00000375069.3:n.362-106462G>A | |
| ENST00000407622.3:c.-69-106462G>A | ENSP00000385092.3:n.-69-106462G>A | |
| ENST00000679896.1:c.-69-106462G>A | ENSP00000505024.1:n.-69-106462G>A | |
| ENST00000680268.1:c.-69-106462G>A | ENSP00000504948.1:n.-69-106462G>A | |
| ENST00000680889.1:c.-69-106462G>A | ENSP00000505009.1:n.-69-106462G>A | |
| ENST00000681261.1:c.-69-106462G>A | ENSP00000505816.1:n.-69-106462G>A | |
| ENST00000390654.7:c.362-106462G>A | ENSP00000375069.3:n.362-106462G>A | |
| NM_173465.3:c.362-106462G>A | NP_775736.2:n.362-106462G>A | |
| XM_006714933.2:c.362-106462G>A | XP_006714996.1:n.362-106462G>A | |
| XM_006714934.2:c.362-106462G>A | XP_006714997.1:n.362-106462G>A | |
| XM_006714935.2:c.362-106462G>A | XP_006714998.1:n.362-106462G>A | |
| XM_006714936.2:c.362-106462G>A | XP_006714999.1:n.362-106462G>A | |
| XM_011534688.1:c.362-106462G>A | XP_011532990.1:n.362-106462G>A | |
| XM_011534689.1:c.362-106462G>A | XP_011532991.1:n.362-106462G>A | |
| XM_011534690.1:c.362-106462G>A | XP_011532992.1:n.362-106462G>A | |
| XM_011534691.1:c.362-106462G>A | XP_011532993.1:n.362-106462G>A | |
| XM_011534692.1:c.80-106462G>A | XP_011532994.1:n.80-106462G>A | |
| XM_006714933.3:c.362-106462G>A | XP_006714996.1:n.362-106462G>A | |
| XM_006714934.3:c.362-106462G>A | XP_006714997.1:n.362-106462G>A | |
| XM_006714935.3:c.362-106462G>A | XP_006714998.1:n.362-106462G>A | |
| XM_006714936.3:c.362-106462G>A | XP_006714999.1:n.362-106462G>A | |
| XM_011534688.2:c.362-106462G>A | XP_011532990.1:n.362-106462G>A | |
| XM_011534689.2:c.362-106462G>A | XP_011532991.1:n.362-106462G>A | |
| XM_011534690.2:c.362-106462G>A | XP_011532992.1:n.362-106462G>A | |
| XM_011534691.2:c.362-106462G>A | XP_011532993.1:n.362-106462G>A | |
| XM_011534692.2:c.80-106462G>A | XP_011532994.1:n.80-106462G>A | |
| XM_017010018.1:c.362-106462G>A | XP_016865507.1:n.362-106462G>A | |
| NM_173465.4:c.362-106462G>A MANE Select | NP_775736.2:n.362-106462G>A |