Linked Data
ClinVar Variation Id:
330463
dbSNP Id:
rs373695282
ExAC:
19:7143089 T / C
gnomAD v2:
19-7143089-T-C
gnomAD v3:
19-7143078-T-C
gnomAD v4:
19-7143078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7143078T>C , CM000681.2:g.7143078T>C | GRCh38 |
| NC_000019.9:g.7143089T>C , CM000681.1:g.7143089T>C | GRCh37 |
| NC_000019.8:g.7094089T>C | NCBI36 |
| NG_008852.2:g.155923A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.2280A>G MANE Select | ENSP00000303830.4:p.Lys760= | |
| ENST00000302850.9:c.2280A>G | ENSP00000303830.4:p.Lys760= | |
| ENST00000341500.9:c.2244A>G | ENSP00000342838.4:p.Lys748= | |
| NM_000208.2:c.2280A>G | NP_000199.2:p.Lys760= | |
| NM_000208.3:c.2280A>G | NP_000199.2:p.Lys760= | |
| NM_001079817.1:c.2244A>G | NP_001073285.1:p.Lys748= | |
| NM_001079817.2:c.2244A>G | NP_001073285.1:p.Lys748= | |
| XM_011527988.1:c.2358A>G | XP_011526290.1:p.Lys786= | |
| XM_011527989.1:c.2322A>G | XP_011526291.1:p.Lys774= | |
| XM_011527988.2:c.2280A>G | XP_011526290.2:p.Lys760= | |
| XM_011527989.3:c.2244A>G | XP_011526291.2:p.Lys748= | |
| NM_000208.4:c.2280A>G MANE Select | NP_000199.2:p.Lys760= | |
| NM_001079817.3:c.2244A>G | NP_001073285.1:p.Lys748= |