Linked Data
dbSNP Id:
rs118078182
gnomAD v2:
5-177922198-G-A
gnomAD v3:
5-178495197-G-A
gnomAD v4:
5-178495197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178495197G>A , CM000667.2:g.178495197G>A | GRCh38 |
| NC_000005.9:g.177922198G>A , CM000667.1:g.177922198G>A | GRCh37 |
| NC_000005.8:g.177854804G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000390654.8:c.361+65485C>T MANE Select | ENSP00000375069.3:n.361+65485C>T | |
| ENST00000407622.3:c.-70+65485C>T | ENSP00000385092.3:n.-70+65485C>T | |
| ENST00000679896.1:c.-70+65485C>T | ENSP00000505024.1:n.-70+65485C>T | |
| ENST00000680268.1:c.-70+65485C>T | ENSP00000504948.1:n.-70+65485C>T | |
| ENST00000680889.1:c.-70+65485C>T | ENSP00000505009.1:n.-70+65485C>T | |
| ENST00000681261.1:c.-70+65485C>T | ENSP00000505816.1:n.-70+65485C>T | |
| ENST00000390654.7:c.361+65485C>T | ENSP00000375069.3:n.361+65485C>T | |
| NM_173465.3:c.361+65485C>T | NP_775736.2:n.361+65485C>T | |
| XM_006714933.2:c.361+65485C>T | XP_006714996.1:n.361+65485C>T | |
| XM_006714934.2:c.361+65485C>T | XP_006714997.1:n.361+65485C>T | |
| XM_006714935.2:c.361+65485C>T | XP_006714998.1:n.361+65485C>T | |
| XM_006714936.2:c.361+65485C>T | XP_006714999.1:n.361+65485C>T | |
| XM_011534688.1:c.361+65485C>T | XP_011532990.1:n.361+65485C>T | |
| XM_011534689.1:c.361+65485C>T | XP_011532991.1:n.361+65485C>T | |
| XM_011534690.1:c.361+65485C>T | XP_011532992.1:n.361+65485C>T | |
| XM_011534691.1:c.361+65485C>T | XP_011532993.1:n.361+65485C>T | |
| XM_011534692.1:c.79+65485C>T | XP_011532994.1:n.79+65485C>T | |
| XM_006714933.3:c.361+65485C>T | XP_006714996.1:n.361+65485C>T | |
| XM_006714934.3:c.361+65485C>T | XP_006714997.1:n.361+65485C>T | |
| XM_006714935.3:c.361+65485C>T | XP_006714998.1:n.361+65485C>T | |
| XM_006714936.3:c.361+65485C>T | XP_006714999.1:n.361+65485C>T | |
| XM_011534688.2:c.361+65485C>T | XP_011532990.1:n.361+65485C>T | |
| XM_011534689.2:c.361+65485C>T | XP_011532991.1:n.361+65485C>T | |
| XM_011534690.2:c.361+65485C>T | XP_011532992.1:n.361+65485C>T | |
| XM_011534691.2:c.361+65485C>T | XP_011532993.1:n.361+65485C>T | |
| XM_011534692.2:c.79+65485C>T | XP_011532994.1:n.79+65485C>T | |
| XM_017010018.1:c.361+65485C>T | XP_016865507.1:n.361+65485C>T | |
| NM_173465.4:c.361+65485C>T MANE Select | NP_775736.2:n.361+65485C>T |