Linked Data
ClinVar Variation Id:
196359
dbSNP Id:
rs781650198
ExAC:
6:35479963 G / A
gnomAD v2:
6-35479963-G-A
gnomAD v3:
6-35512186-G-A
gnomAD v4:
6-35512186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35512186G>A , CM000668.2:g.35512186G>A | GRCh38 |
| NC_000006.11:g.35479963G>A , CM000668.1:g.35479963G>A | GRCh37 |
| NC_000006.10:g.35587941G>A | NCBI36 |
| NG_009077.1:g.5685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.184C>T MANE Select | ENSP00000229771.6:p.Pro62Ser | |
| ENST00000229771.10:c.184C>T | ENSP00000229771.6:p.Pro62Ser | |
| ENST00000322263.8:c.184C>T | ENSP00000319414.4:p.Pro62Ser | |
| ENST00000428978.1:c.184C>T | ENSP00000406765.1:p.Pro62Ser | |
| ENST00000448446.2:n.89C>T | ||
| ENST00000614066.4:c.184C>T | ENSP00000477534.1:p.Pro62Ser | |
| NM_001289395.1:c.184C>T | NP_001276324.1:p.Pro62Ser | |
| NM_003322.4:c.184C>T | NP_003313.3:p.Pro62Ser | |
| NM_003322.5:c.184C>T | NP_003313.3:p.Pro62Ser | |
| NM_003322.6:c.184C>T MANE Select | NP_003313.3:p.Pro62Ser | |
| NM_001289395.2:c.184C>T | NP_001276324.1:p.Pro62Ser |