Linked Data
ClinVar Variation Id:
1121560
ClinVar RCV Id:
RCV001451864
dbSNP Id:
rs1441287074
gnomAD v2:
10-50669445-G-A
gnomAD v4:
10-49461399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461399G>A , CM000672.2:g.49461399G>A | GRCh38 |
| NC_000010.10:g.50669445G>A , CM000672.1:g.50669445G>A | GRCh37 |
| NC_000010.9:g.50339451G>A | NCBI36 |
| NG_009442.1:g.82703C>T , LRG_465:g.82703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3936C>T MANE Select | ENSP00000348089.5:p.Pro1312= | |
| ENST00000679552.1:n.1007C>T | ||
| ENST00000679871.1:n.1082C>T | ||
| ENST00000679974.1:n.985C>T | ||
| ENST00000681632.1:n.5339C>T | ||
| ENST00000681659.1:c.3777C>T | ENSP00000505631.1:p.Pro1259= | |
| ENST00000355832.9:c.3936C>T | ENSP00000348089.5:p.Pro1312= | |
| ENST00000465653.1:n.258C>T | ||
| ENST00000623073.3:c.*2232C>T | ENSP00000485650.1:n.*2232C>T | |
| ENST00000623115.3:c.2046C>T | ENSP00000485321.1:p.Pro682= | |
| ENST00000624341.3:c.1768C>T | ||
| NM_000124.3:c.3936C>T | NP_000115.1:p.Pro1312= | |
| XR_945953.1:n.243-10166G>A | ||
| NM_001346440.1:c.3936C>T | NP_001333369.1:p.Pro1312= | |
| NM_000124.4:c.3936C>T MANE Select | NP_000115.1:p.Pro1312= | |
| NM_001346440.2:c.3936C>T | NP_001333369.1:p.Pro1312= |