Linked Data
ClinVar Variation Id:
313099
ClinVar RCV Id:
RCV000394665
dbSNP Id:
rs2273650
gnomAD v2:
14-35870798-C-T
gnomAD v3:
14-35401592-C-T
gnomAD v4:
14-35401592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35401592C>T , CM000676.2:g.35401592C>T | GRCh38 |
| NC_000014.8:g.35870798C>T , CM000676.1:g.35870798C>T | GRCh37 |
| NC_000014.7:g.34940549C>T | NCBI36 |
| NG_007571.1:g.8147G>A , LRG_89:g.8147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553342.2:c.*421G>A | ENSP00000451281.2:n.*421G>A | |
| ENST00000697954.1:n.1584G>A | ||
| ENST00000697955.1:n.1623G>A | ||
| ENST00000697956.1:n.1651G>A | ||
| ENST00000697957.1:n.1770G>A | ||
| ENST00000697958.1:n.2425G>A | ||
| ENST00000697959.1:n.2103G>A | ||
| ENST00000697960.1:n.2519G>A | ||
| ENST00000697961.1:c.*790G>A | ENSP00000513487.1:n.*790G>A | |
| ENST00000216797.10:c.*421G>A MANE Select | ENSP00000216797.6:n.*421G>A | |
| ENST00000216797.9:c.*421G>A | ENSP00000216797.5:n.*421G>A | |
| ENST00000554001.5:c.*1017G>A | ENSP00000450537.1:n.*1017G>A | |
| ENST00000557140.5:c.*421G>A | ENSP00000451257.1:n.*421G>A | |
| ENST00000557389.1:c.*421G>A | ENSP00000450514.1:n.*421G>A | |
| NM_020529.2:c.*421G>A , LRG_89t1:c.*421G>A | NP_065390.1:n.*421G>A | |
| NM_020529.3:c.*421G>A MANE Select | NP_065390.1:n.*421G>A |