Linked Data
ClinVar Variation Id:
208483
ClinVar RCV Id:
RCV000194840
dbSNP Id:
rs797045000
gnomAD v2:
7-103270558-G-A
PubMed:
PMID:20301709
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103630111G>A , CM000669.2:g.103630111G>A | GRCh38 |
| NC_000007.13:g.103270558G>A , CM000669.1:g.103270558G>A | GRCh37 |
| NC_000007.12:g.103057794G>A | NCBI36 |
| NG_011877.1:g.364406C>T | |
| NG_011877.2:g.364406C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.2531C>T | ENSP00000388446.3:p.Pro844Leu | |
| ENST00000428762.6:c.2531C>T MANE Select | ENSP00000392423.1:p.Pro844Leu | |
| ENST00000473457.2:n.2795C>T | ||
| ENST00000679867.1:n.2415C>T | ||
| ENST00000680706.1:n.234C>T | ||
| ENST00000681034.1:c.2531C>T | ENSP00000506075.1:p.Pro844Leu | |
| ENST00000343529.9:c.2531C>T | ENSP00000345694.5:p.Pro844Leu | |
| ENST00000424685.2:c.2531C>T | ENSP00000388446.2:p.Pro844Leu | |
| ENST00000428762.5:c.2531C>T | ENSP00000392423.1:p.Pro844Leu | |
| ENST00000473457.1:n.26C>T | ||
| NM_005045.3:c.2531C>T | NP_005036.2:p.Pro844Leu | |
| NM_173054.2:c.2531C>T | NP_774959.1:p.Pro844Leu | |
| NM_005045.4:c.2531C>T MANE Select | NP_005036.2:p.Pro844Leu | |
| NM_173054.3:c.2531C>T | NP_774959.1:p.Pro844Leu |