Linked Data
dbSNP Id:
rs958872431
gnomAD v2:
6-105443947-C-T
gnomAD v3:
6-104996072-C-T
gnomAD v4:
6-104996072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104996072C>T , CM000668.2:g.104996072C>T | GRCh38 |
| NC_000006.11:g.105443947C>T , CM000668.1:g.105443947C>T | GRCh37 |
| NC_000006.10:g.105550640C>T | NCBI36 |
| NG_032815.1:g.44025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345080.5:c.199-30226C>T MANE Select | ENSP00000344401.4:n.199-30226C>T | |
| ENST00000635857.1:c.256-30226C>T | ENSP00000489735.1:n.256-30226C>T | |
| ENST00000637759.1:c.223-30226C>T | ENSP00000490468.1:n.223-30226C>T | |
| ENST00000345080.4:c.199-30226C>T | ENSP00000344401.4:n.199-30226C>T | |
| NM_001004317.3:c.199-30226C>T | NP_001004317.1:n.199-30226C>T | |
| XM_006715477.2:c.256-30226C>T | XP_006715540.2:n.256-30226C>T | |
| XM_011535818.1:c.223-30226C>T | XP_011534120.1:n.223-30226C>T | |
| XM_011535818.3:c.223-30226C>T | XP_011534120.1:n.223-30226C>T | |
| NM_001004317.4:c.199-30226C>T MANE Select | NP_001004317.1:n.199-30226C>T |