Linked Data
dbSNP Id:
rs147894869
gnomAD v2:
4-3258292-C-T
gnomAD v3:
4-3256565-C-T
gnomAD v4:
4-3256565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256565C>T , CM000666.2:g.3256565C>T | GRCh38 |
| NC_000004.11:g.3258292C>T , CM000666.1:g.3258292C>T | GRCh37 |
| NC_000004.10:g.3228090C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438480.7:c.*600C>T MANE Select | ENSP00000411584.2:n.*600C>T | |
| ENST00000505599.5:c.729+708C>T | ENSP00000425405.1:n.729+708C>T | |
| ENST00000507492.5:c.*600C>T | ENSP00000423547.1:n.*600C>T | |
| ENST00000510580.1:c.765+672C>T | ENSP00000420966.1:n.765+672C>T | |
| NM_001042690.1:c.*600C>T | NP_001036155.1:n.*600C>T | |
| XM_006713883.2:c.*600C>T | XP_006713946.1:n.*600C>T | |
| XM_011513464.1:c.729+708C>T | XP_011511766.1:n.729+708C>T | |
| XM_011513465.1:c.*600C>T | XP_011511767.1:n.*600C>T | |
| XM_011513466.1:c.*600C>T | XP_011511768.1:n.*600C>T | |
| XM_011513467.1:c.*600C>T | XP_011511769.1:n.*600C>T | |
| XR_924950.1:n.753+708C>T | ||
| NM_001330620.1:c.*600C>T | NP_001317549.1:n.*600C>T | |
| XM_011513466.3:c.*600C>T | XP_011511768.1:n.*600C>T | |
| XM_011513467.3:c.*600C>T | XP_011511769.1:n.*600C>T | |
| NM_001042690.2:c.*600C>T MANE Select | NP_001036155.1:n.*600C>T | |
| NM_001330620.2:c.*600C>T | NP_001317549.1:n.*600C>T |