Linked Data
dbSNP Id:
rs17065417
gnomAD v2:
6-105406274-A-C
gnomAD v3:
6-104958399-A-C
gnomAD v4:
6-104958399-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104958399A>C , CM000668.2:g.104958399A>C | GRCh38 |
| NC_000006.11:g.105406274A>C , CM000668.1:g.105406274A>C | GRCh37 |
| NC_000006.10:g.105512967A>C | NCBI36 |
| NG_032815.1:g.6352A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345080.5:c.198+113A>C MANE Select | ENSP00000344401.4:n.198+113A>C | |
| ENST00000635857.1:c.255+113A>C | ENSP00000489735.1:n.255+113A>C | |
| ENST00000637759.1:c.222+113A>C | ENSP00000490468.1:n.222+113A>C | |
| ENST00000345080.4:c.198+113A>C | ENSP00000344401.4:n.198+113A>C | |
| NM_001004317.3:c.198+113A>C | NP_001004317.1:n.198+113A>C | |
| XM_006715477.2:c.255+113A>C | XP_006715540.2:n.255+113A>C | |
| XM_011535818.1:c.222+113A>C | XP_011534120.1:n.222+113A>C | |
| XM_011535818.3:c.222+113A>C | XP_011534120.1:n.222+113A>C | |
| NM_001004317.4:c.198+113A>C MANE Select | NP_001004317.1:n.198+113A>C |