Linked Data
ClinVar Variation Id:
11995
ClinVar RCV Id:
RCV000012775
dbSNP Id:
rs113993977
gnomAD v4:
14-50915933-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50915933G>C , CM000676.2:g.50915933G>C | GRCh38 |
| NC_000014.8:g.51382651G>C , CM000676.1:g.51382651G>C | GRCh37 |
| NC_000014.7:g.50452401G>C | NCBI36 |
| NG_012796.1:g.33598C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.1131C>G MANE Select | ENSP00000216392.7:p.Asn377Lys | |
| ENST00000216392.7:c.1131C>G | ENSP00000216392.7:p.Asn377Lys | |
| ENST00000528757.2:n.8C>G | ||
| ENST00000532462.5:c.1131C>G | ENSP00000431657.1:p.Asn377Lys | |
| ENST00000544180.6:c.1029C>G | ENSP00000443787.1:p.Asn343Lys | |
| NM_001163940.1:c.1029C>G | NP_001157412.1:p.Asn343Lys | |
| NM_002863.4:c.1131C>G | NP_002854.3:p.Asn377Lys | |
| NM_002863.5:c.1131C>G MANE Select | NP_002854.3:p.Asn377Lys | |
| NM_001163940.2:c.1029C>G | NP_001157412.1:p.Asn343Lys |