Linked Data
dbSNP Id:
rs1178826075
gnomAD v2:
18-7015822-G-A
gnomAD v4:
18-7015823-G-A
COSMIC:
COSM438363
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015823G>A , CM000680.2:g.7015823G>A | GRCh38 |
| NC_000018.9:g.7015822G>A , CM000680.1:g.7015822G>A | GRCh37 |
| NC_000018.8:g.7005822G>A | NCBI36 |
| NG_034251.1:g.106992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3025C>T MANE Select | ENSP00000374309.3:p.Pro1009Ser | |
| ENST00000389658.3:c.3025C>T | ENSP00000374309.3:p.Pro1009Ser | |
| ENST00000579014.5:n.4040C>T | ||
| NM_005559.3:c.3025C>T | NP_005550.2:p.Pro1009Ser | |
| XM_011525655.1:c.3025C>T | XP_011523957.1:p.Pro1009Ser | |
| XM_011525656.1:c.1453C>T | XP_011523958.1:p.Pro485Ser | |
| XM_011525657.1:c.3025C>T | XP_011523959.1:p.Pro1009Ser | |
| XM_011525655.2:c.3025C>T | XP_011523957.1:p.Pro1009Ser | |
| XM_011525656.2:c.1453C>T | XP_011523958.1:p.Pro485Ser | |
| NM_005559.4:c.3025C>T MANE Select | NP_005550.2:p.Pro1009Ser |