Linked Data
dbSNP Id:
rs1414644373
gnomAD v2:
1-10438797-A-C
gnomAD v3:
1-10378739-A-C
gnomAD v4:
1-10378739-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378739A>C , CM000663.2:g.10378739A>C | GRCh38 |
| NC_000001.10:g.10438797A>C , CM000663.1:g.10438797A>C | GRCh37 |
| NC_000001.9:g.10361384A>C | NCBI36 |
| NG_008069.1:g.173034A>C , LRG_252:g.173034A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*2152A>C MANE Select | ENSP00000502065.1:n.*2152A>C | |
| ENST00000377081.5:c.*337A>C | ENSP00000366284.1:n.*337A>C | |
| ENST00000377086.5:c.*2152A>C | ENSP00000366290.1:n.*2152A>C | |
| ENST00000620295.2:c.5767A>C | ENSP00000478500.1:n.5767A>C | |
| ENST00000622724.3:c.5731A>C | ENSP00000480063.1:n.5731A>C | |
| NM_015074.3:c.*2152A>C , LRG_252t1:c.*2152A>C | NP_055889.2:n.*2152A>C | |
| NM_001365951.1:c.*2152A>C | NP_001352880.1:n.*2152A>C | |
| NM_001365952.1:c.*2152A>C | NP_001352881.1:n.*2152A>C | |
| NM_001365951.3:c.*2152A>C MANE Select | NP_001352880.1:n.*2152A>C |