Linked Data
dbSNP Id:
rs10515789
gnomAD v2:
5-158506415-T-G
gnomAD v3:
5-159079407-T-G
gnomAD v4:
5-159079407-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159079407T>G , CM000667.2:g.159079407T>G | GRCh38 |
| NC_000005.9:g.158506415T>G , CM000667.1:g.158506415T>G | GRCh37 |
| NC_000005.8:g.158438993T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313708.11:c.485+5259A>C MANE Select | ENSP00000322898.6:n.485+5259A>C | |
| ENST00000313708.10:c.485+5259A>C | ENSP00000322898.6:n.485+5259A>C | |
| ENST00000380654.8:c.485+5259A>C | ENSP00000370029.4:n.485+5259A>C | |
| ENST00000517373.1:c.485+5259A>C | ENSP00000428020.1:n.485+5259A>C | |
| ENST00000518836.5:n.645+5259A>C | ||
| ENST00000519739.5:n.253+5259A>C | ||
| ENST00000522192.5:n.394+5259A>C | ||
| NM_001290360.1:c.485+5259A>C | NP_001277289.1:n.485+5259A>C | |
| NM_024007.3:c.485+5259A>C | NP_076870.1:n.485+5259A>C | |
| NM_182708.1:c.485+5259A>C | NP_874367.1:n.485+5259A>C | |
| XM_005265834.1:c.485+5259A>C | XP_005265891.1:n.485+5259A>C | |
| XM_011534452.1:c.485+5259A>C | XP_011532754.1:n.485+5259A>C | |
| XM_011534453.1:c.485+5259A>C | XP_011532755.1:n.485+5259A>C | |
| XM_011534454.1:c.485+5259A>C | XP_011532756.1:n.485+5259A>C | |
| XM_011534455.1:c.485+5259A>C | XP_011532757.1:n.485+5259A>C | |
| XM_011534456.1:c.371+5259A>C | XP_011532758.1:n.371+5259A>C | |
| NM_001290360.2:c.485+5259A>C | NP_001277289.1:n.485+5259A>C | |
| NM_001324101.1:c.485+5259A>C | NP_001311030.1:n.485+5259A>C | |
| NM_001324103.1:c.485+5259A>C | NP_001311032.1:n.485+5259A>C | |
| NM_001324106.1:c.485+5259A>C | NP_001311035.1:n.485+5259A>C | |
| NM_001324107.1:c.485+5259A>C | NP_001311036.1:n.485+5259A>C | |
| NM_001324108.1:c.485+5259A>C | NP_001311037.1:n.485+5259A>C | |
| NM_001324109.1:c.485+5259A>C | NP_001311038.1:n.485+5259A>C | |
| NM_001324111.1:c.86+5259A>C | NP_001311040.1:n.86+5259A>C | |
| NM_001364155.1:c.485+5259A>C | NP_001351084.1:n.485+5259A>C | |
| NM_001364156.1:c.371+5259A>C | NP_001351085.1:n.371+5259A>C | |
| NM_001364157.1:c.371+5259A>C | NP_001351086.1:n.371+5259A>C | |
| NM_001364158.1:c.86+5259A>C | NP_001351087.1:n.86+5259A>C | |
| NM_001364159.1:c.86+5259A>C | NP_001351088.1:n.86+5259A>C | |
| NM_024007.4:c.485+5259A>C | NP_076870.1:n.485+5259A>C | |
| NM_182708.2:c.485+5259A>C | NP_874367.1:n.485+5259A>C | |
| XM_017009192.1:c.485+5259A>C | XP_016864681.1:n.485+5259A>C | |
| XM_017009193.1:c.485+5259A>C | XP_016864682.1:n.485+5259A>C | |
| XM_017009194.1:c.485+5259A>C | XP_016864683.1:n.485+5259A>C | |
| XM_017009195.1:c.485+5259A>C | XP_016864684.1:n.485+5259A>C | |
| XM_017009196.1:c.371+5259A>C | XP_016864685.1:n.371+5259A>C | |
| XM_017009197.1:c.371+5259A>C | XP_016864686.1:n.371+5259A>C | |
| XM_017009202.1:c.485+5259A>C | XP_016864691.1:n.485+5259A>C | |
| XM_017009203.1:c.485+5259A>C | XP_016864692.1:n.485+5259A>C | |
| XM_024454390.1:c.86+5259A>C | XP_024310158.1:n.86+5259A>C | |
| XM_024454391.1:c.86+5259A>C | XP_024310159.1:n.86+5259A>C | |
| XM_024454392.1:c.86+5259A>C | XP_024310160.1:n.86+5259A>C | |
| XM_024454393.1:c.86+5259A>C | XP_024310161.1:n.86+5259A>C | |
| NM_024007.5:c.485+5259A>C MANE Select | NP_076870.1:n.485+5259A>C | |
| NM_001290360.3:c.485+5259A>C | NP_001277289.1:n.485+5259A>C | |
| NM_001324101.2:c.485+5259A>C | NP_001311030.1:n.485+5259A>C | |
| NM_001324103.2:c.485+5259A>C | NP_001311032.1:n.485+5259A>C | |
| NM_001324106.2:c.485+5259A>C | NP_001311035.1:n.485+5259A>C | |
| NM_001324107.2:c.485+5259A>C | NP_001311036.1:n.485+5259A>C | |
| NM_001324108.2:c.485+5259A>C | NP_001311037.1:n.485+5259A>C | |
| NM_001324109.2:c.485+5259A>C | NP_001311038.1:n.485+5259A>C | |
| NM_001324111.2:c.86+5259A>C | NP_001311040.1:n.86+5259A>C | |
| NM_182708.3:c.485+5259A>C | NP_874367.1:n.485+5259A>C | |
| NM_001364155.2:c.485+5259A>C | NP_001351084.1:n.485+5259A>C | |
| NM_001364156.2:c.371+5259A>C | NP_001351085.1:n.371+5259A>C | |
| NM_001364157.2:c.371+5259A>C | NP_001351086.1:n.371+5259A>C | |
| NM_001364158.2:c.86+5259A>C | NP_001351087.1:n.86+5259A>C | |
| NM_001364159.2:c.86+5259A>C | NP_001351088.1:n.86+5259A>C |