Linked Data
dbSNP Id:
rs992231489
gnomAD v2:
2-96917398-T-G
gnomAD v3:
2-96251660-T-G
gnomAD v4:
2-96251660-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251660T>G , CM000664.2:g.96251660T>G | GRCh38 |
| NC_000002.11:g.96917398T>G , CM000664.1:g.96917398T>G | GRCh37 |
| NC_000002.10:g.96281125T>G | NCBI36 |
| NG_027695.1:g.19354A>C , LRG_528:g.19354A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*2148A>C MANE Select | ENSP00000258439.3:n.*2148A>C | |
| ENST00000258439.7:c.*2148A>C | ENSP00000258439.2:n.*2148A>C | |
| ENST00000432959.1:c.*2148A>C | ENSP00000416660.1:n.*2148A>C | |
| NM_001193304.2:c.*2148A>C | NP_001180233.1:n.*2148A>C | |
| NM_017849.3:c.*2148A>C , LRG_528t1:c.*2148A>C | NP_060319.1:n.*2148A>C | |
| XM_017004450.1:c.*1449A>C | XP_016859939.1:n.*1449A>C | |
| XM_017004452.1:c.*2148A>C | XP_016859941.1:n.*2148A>C | |
| NM_001193304.3:c.*2148A>C | NP_001180233.1:n.*2148A>C | |
| NM_017849.4:c.*2148A>C MANE Select | NP_060319.1:n.*2148A>C |