Linked Data
dbSNP Id:
rs769692117
ExAC:
9:38396824 C / G
gnomAD v2:
9-38396824-C-G
gnomAD v4:
9-38396827-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396827C>G , CM000671.2:g.38396827C>G | GRCh38 |
| NC_000009.11:g.38396824C>G , CM000671.1:g.38396824C>G | GRCh37 |
| NC_000009.10:g.38386824C>G | NCBI36 |
| NG_012253.1:g.9123C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1079C>G MANE Select | ENSP00000366927.3:p.Pro360Arg | |
| ENST00000377698.3:c.1079C>G | ENSP00000366927.3:p.Pro360Arg | |
| NM_000692.4:c.1079C>G | NP_000683.3:p.Pro360Arg | |
| XM_011517802.1:c.1079C>G | XP_011516104.1:p.Pro360Arg | |
| XM_011517802.2:c.1079C>G | XP_011516104.1:p.Pro360Arg | |
| NM_000692.5:c.1079C>G MANE Select | NP_000683.3:p.Pro360Arg |