Linked Data
dbSNP Id:
rs10062446
gnomAD v2:
5-132040374-T-A
gnomAD v3:
5-132704682-T-A
gnomAD v4:
5-132704682-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132704682T>A , CM000667.2:g.132704682T>A | GRCh38 |
| NC_000005.9:g.132040374T>A , CM000667.1:g.132040374T>A | GRCh37 |
| NC_000005.8:g.132068273T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403231.6:c.1310-1063A>T MANE Select | ENSP00000385808.1:n.1310-1063A>T | |
| ENST00000378735.5:c.1238-1063A>T | ENSP00000368009.1:n.1238-1063A>T | |
| ENST00000378746.8:c.1229-1063A>T | ENSP00000368020.3:n.1229-1063A>T | |
| ENST00000403231.5:c.1310-1063A>T | ENSP00000385808.1:n.1310-1063A>T | |
| ENST00000618515.4:c.1307-1063A>T | ENSP00000483023.1:n.1307-1063A>T | |
| NM_001300791.1:c.1310-1063A>T | NP_001287720.1:n.1310-1063A>T | |
| NM_001300792.1:c.1238-1063A>T | NP_001287721.1:n.1238-1063A>T | |
| NM_007054.6:c.1229-1063A>T | NP_008985.3:n.1229-1063A>T | |
| XM_006714526.2:c.1310-1063A>T | XP_006714589.1:n.1310-1063A>T | |
| XM_006714526.4:c.1310-1063A>T | XP_006714589.1:n.1310-1063A>T | |
| XM_017008995.2:c.1238-1063A>T | XP_016864484.1:n.1238-1063A>T | |
| XM_017008996.2:c.1229-1063A>T | XP_016864485.1:n.1229-1063A>T | |
| NM_001300791.2:c.1310-1063A>T MANE Select | NP_001287720.1:n.1310-1063A>T | |
| NM_001300792.2:c.1238-1063A>T | NP_001287721.1:n.1238-1063A>T | |
| NM_007054.7:c.1229-1063A>T | NP_008985.3:n.1229-1063A>T |