Linked Data
ClinVar Variation Id:
537326
ClinVar RCV Id:
RCV000646148
dbSNP Id:
rs376370831
gnomAD v2:
14-35871723-T-G
gnomAD v3:
14-35402517-T-G
gnomAD v4:
14-35402517-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35402517T>G , CM000676.2:g.35402517T>G | GRCh38 |
| NC_000014.8:g.35871723T>G , CM000676.1:g.35871723T>G | GRCh37 |
| NC_000014.7:g.34941474T>G | NCBI36 |
| NG_007571.1:g.7222A>C , LRG_89:g.7222A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.711A>C | ENSP00000451281.2:p.Pro237= | |
| ENST00000557459.2:n.1278A>C | ||
| ENST00000697954.1:n.992A>C | ||
| ENST00000697955.1:n.1031A>C | ||
| ENST00000697956.1:n.1059A>C | ||
| ENST00000697957.1:n.1178A>C | ||
| ENST00000697958.1:n.1500A>C | ||
| ENST00000697959.1:n.1178A>C | ||
| ENST00000697960.1:n.1594A>C | ||
| ENST00000697961.1:c.783A>C | ENSP00000513487.1:p.Pro261= | |
| ENST00000697962.1:c.513A>C | ENSP00000513488.1:p.Pro171= | |
| ENST00000697966.1:n.801A>C | ||
| ENST00000216797.10:c.783A>C MANE Select | ENSP00000216797.6:p.Pro261= | |
| ENST00000216797.9:c.783A>C | ENSP00000216797.5:p.Pro261= | |
| ENST00000554001.5:c.*425A>C | ENSP00000450537.1:n.*425A>C | |
| ENST00000555371.1:n.432A>C | ||
| ENST00000557100.5:n.750A>C | ||
| ENST00000557140.5:c.654A>C | ENSP00000451257.1:p.Pro218= | |
| ENST00000557389.1:c.513A>C | ENSP00000450514.1:p.Pro171= | |
| NM_020529.2:c.783A>C , LRG_89t1:c.783A>C | NP_065390.1:p.Pro261= | |
| NM_020529.3:c.783A>C MANE Select | NP_065390.1:p.Pro261= |