Linked Data
dbSNP Id:
rs780301757
ExAC:
19:7125481 G / C
gnomAD v2:
19-7125481-G-C
gnomAD v4:
19-7125470-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125470G>C , CM000681.2:g.7125470G>C | GRCh38 |
| NC_000019.9:g.7125481G>C , CM000681.1:g.7125481G>C | GRCh37 |
| NC_000019.8:g.7076481G>C | NCBI36 |
| NG_008852.2:g.173531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3071C>G MANE Select | ENSP00000303830.4:p.Thr1024Ser | |
| ENST00000302850.9:c.3071C>G | ENSP00000303830.4:p.Thr1024Ser | |
| ENST00000341500.9:c.3035C>G | ENSP00000342838.4:p.Thr1012Ser | |
| NM_000208.2:c.3071C>G | NP_000199.2:p.Thr1024Ser | |
| NM_000208.3:c.3071C>G | NP_000199.2:p.Thr1024Ser | |
| NM_001079817.1:c.3035C>G | NP_001073285.1:p.Thr1012Ser | |
| NM_001079817.2:c.3035C>G | NP_001073285.1:p.Thr1012Ser | |
| XM_011527988.1:c.3146C>G | XP_011526290.1:p.Thr1049Ser | |
| XM_011527989.1:c.3110C>G | XP_011526291.1:p.Thr1037Ser | |
| XM_011527988.2:c.3068C>G | XP_011526290.2:p.Thr1023Ser | |
| XM_011527989.3:c.3032C>G | XP_011526291.2:p.Thr1011Ser | |
| NM_000208.4:c.3071C>G MANE Select | NP_000199.2:p.Thr1024Ser | |
| NM_001079817.3:c.3035C>G | NP_001073285.1:p.Thr1012Ser |