Linked Data
dbSNP Id:
rs899616707
gnomAD v2:
4-187120215-T-G
gnomAD v3:
4-186199061-T-G
gnomAD v4:
4-186199061-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186199061T>G , CM000666.2:g.186199061T>G | GRCh38 |
| NC_000004.11:g.187120215T>G , CM000666.1:g.187120215T>G | GRCh37 |
| NC_000004.10:g.187357209T>G | NCBI36 |
| NG_007965.1:g.12542T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.779T>G MANE Select | ENSP00000368079.4:p.Ile260Ser | |
| ENST00000378802.4:c.779T>G | ENSP00000368079.4:p.Ile260Ser | |
| ENST00000507209.5:n.1620T>G | ||
| NM_207352.3:c.779T>G | NP_997235.3:p.Ile260Ser | |
| XM_005262935.2:c.779T>G | XP_005262992.1:p.Ile260Ser | |
| XM_006714184.2:c.383T>G | XP_006714247.1:p.Ile128Ser | |
| XM_005262935.4:c.779T>G | XP_005262992.1:p.Ile260Ser | |
| XM_017008037.1:c.383T>G | XP_016863526.1:p.Ile128Ser | |
| NM_207352.4:c.779T>G MANE Select | NP_997235.3:p.Ile260Ser |