Linked Data
dbSNP Id:
rs561916997
gnomAD v2:
6-136321490-C-T
gnomAD v3:
6-136000352-C-T
gnomAD v4:
6-136000352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136000352C>T , CM000668.2:g.136000352C>T | GRCh38 |
| NC_000006.11:g.136321490C>T , CM000668.1:g.136321490C>T | GRCh37 |
| NC_000006.10:g.136363183C>T | NCBI36 |
| NG_011994.1:g.153657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308191.11:c.82+52828C>T MANE Select | ENSP00000310661.6:n.82+52828C>T | |
| ENST00000308191.10:c.82+52828C>T | ENSP00000310661.6:n.82+52828C>T | |
| NM_018945.3:c.82+52828C>T | NP_061818.1:n.82+52828C>T | |
| XM_011535755.1:c.199+52828C>T | XP_011534057.1:n.199+52828C>T | |
| NM_018945.4:c.82+52828C>T MANE Select | NP_061818.1:n.82+52828C>T |