Linked Data
dbSNP Id:
rs200180686
ExAC:
19:7128996 T / C
gnomAD v2:
19-7128996-T-C
gnomAD v3:
19-7128985-T-C
gnomAD v4:
19-7128985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7128985T>C , CM000681.2:g.7128985T>C | GRCh38 |
| NC_000019.9:g.7128996T>C , CM000681.1:g.7128996T>C | GRCh37 |
| NC_000019.8:g.7079996T>C | NCBI36 |
| NG_008852.2:g.170016A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.2843-31A>G MANE Select | ENSP00000303830.4:n.2843-31A>G | |
| ENST00000302850.9:c.2843-31A>G | ENSP00000303830.4:n.2843-31A>G | |
| ENST00000341500.9:c.2807-31A>G | ENSP00000342838.4:n.2807-31A>G | |
| NM_000208.2:c.2843-31A>G | NP_000199.2:n.2843-31A>G | |
| NM_000208.3:c.2843-31A>G | NP_000199.2:n.2843-31A>G | |
| NM_001079817.1:c.2807-31A>G | NP_001073285.1:n.2807-31A>G | |
| NM_001079817.2:c.2807-31A>G | NP_001073285.1:n.2807-31A>G | |
| XM_011527988.1:c.2921-34A>G | XP_011526290.1:n.2921-34A>G | |
| XM_011527989.1:c.2885-34A>G | XP_011526291.1:n.2885-34A>G | |
| XM_011527988.2:c.2843-34A>G | XP_011526290.2:n.2843-34A>G | |
| XM_011527989.3:c.2807-34A>G | XP_011526291.2:n.2807-34A>G | |
| NM_000208.4:c.2843-31A>G MANE Select | NP_000199.2:n.2843-31A>G | |
| NM_001079817.3:c.2807-31A>G | NP_001073285.1:n.2807-31A>G |