Linked Data
ClinVar Variation Id:
894751
dbSNP Id:
rs749041393
gnomAD v2:
19-7116980-G-A
gnomAD v3:
19-7116969-G-A
gnomAD v4:
19-7116969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7116969G>A , CM000681.2:g.7116969G>A | GRCh38 |
| NC_000019.9:g.7116980G>A , CM000681.1:g.7116980G>A | GRCh37 |
| NC_000019.8:g.7067980G>A | NCBI36 |
| NG_008852.2:g.182032C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.*87C>T MANE Select | ENSP00000303830.4:n.*87C>T | |
| ENST00000302850.9:c.*87C>T | ENSP00000303830.4:n.*87C>T | |
| ENST00000341500.9:c.*87C>T | ENSP00000342838.4:n.*87C>T | |
| NM_000208.2:c.*87C>T | NP_000199.2:n.*87C>T | |
| NM_000208.3:c.*87C>T | NP_000199.2:n.*87C>T | |
| NM_001079817.1:c.*87C>T | NP_001073285.1:n.*87C>T | |
| NM_001079817.2:c.*87C>T | NP_001073285.1:n.*87C>T | |
| XM_011527988.1:c.*87C>T | XP_011526290.1:n.*87C>T | |
| XM_011527989.1:c.*87C>T | XP_011526291.1:n.*87C>T | |
| XM_011527988.2:c.*87C>T | XP_011526290.2:n.*87C>T | |
| XM_011527989.3:c.*87C>T | XP_011526291.2:n.*87C>T | |
| NM_000208.4:c.*87C>T MANE Select | NP_000199.2:n.*87C>T | |
| NM_001079817.3:c.*87C>T | NP_001073285.1:n.*87C>T |