Linked Data
ClinVar Variation Id:
2772976
ClinVar RCV Id:
RCV003576954
dbSNP Id:
rs1433585634
gnomAD v2:
14-99640909-G-A
gnomAD v4:
14-99174572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174572G>A , CM000676.2:g.99174572G>A | GRCh38 |
| NC_000014.8:g.99640909G>A , CM000676.1:g.99640909G>A | GRCh37 |
| NC_000014.7:g.98710662G>A | NCBI36 |
| NG_027894.1:g.101914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2264C>T MANE Select | ENSP00000349723.3:p.Pro755Leu | |
| ENST00000345514.2:c.2051C>T | ENSP00000280435.6:p.Pro684Leu | |
| ENST00000357195.7:c.2264C>T | ENSP00000349723.3:p.Pro755Leu | |
| ENST00000443726.2:c.1682C>T | ENSP00000387419.2:p.Pro561Leu | |
| NM_001282237.1:c.2261C>T | NP_001269166.1:p.Pro754Leu | |
| NM_001282238.1:c.2048C>T | NP_001269167.1:p.Pro683Leu | |
| NM_022898.2:c.2051C>T | NP_075049.1:p.Pro684Leu | |
| NM_138576.3:c.2264C>T | NP_612808.1:p.Pro755Leu | |
| XM_011537100.1:c.2126C>T | XP_011535402.1:p.Pro709Leu | |
| NM_138576.4:c.2264C>T MANE Select | NP_612808.1:p.Pro755Leu | |
| NM_001282237.2:c.2261C>T | NP_001269166.1:p.Pro754Leu | |
| NM_001282238.2:c.2048C>T | NP_001269167.1:p.Pro683Leu | |
| NM_022898.3:c.2051C>T | NP_075049.1:p.Pro684Leu |