Linked Data
dbSNP Id:
rs6574549
gnomAD v2:
14-80668101-T-G
gnomAD v3:
14-80201758-T-G
gnomAD v4:
14-80201758-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80201758T>G , CM000676.2:g.80201758T>G | GRCh38 |
| NC_000014.8:g.80668101T>G , CM000676.1:g.80668101T>G | GRCh37 |
| NC_000014.7:g.79737854T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438257.9:c.*931A>C MANE Select | ENSP00000405854.5:n.*931A>C | |
| ENST00000422005.7:c.*1554A>C | ENSP00000411438.4:n.*1554A>C | |
| ENST00000438257.8:c.*931A>C | ENSP00000405854.4:n.*931A>C | |
| ENST00000557010.5:c.*931A>C | ENSP00000451419.1:n.*931A>C | |
| NM_000793.5:c.*931A>C | NP_000784.2:n.*931A>C | |
| NM_001007023.3:c.*931A>C | NP_001007024.1:n.*931A>C | |
| NM_001242502.1:c.*1554A>C | NP_001229431.1:n.*1554A>C | |
| NM_001242503.1:c.*1554A>C | NP_001229432.1:n.*1554A>C | |
| NM_013989.4:c.*931A>C | NP_054644.1:n.*931A>C | |
| NM_000793.6:c.*955A>C | NP_000784.3:n.*955A>C | |
| NM_001324462.2:c.*955A>C | NP_001311391.2:n.*955A>C | |
| NM_001366496.1:c.*955A>C | NP_001353425.1:n.*955A>C | |
| NM_013989.5:c.*931A>C MANE Select | NP_054644.1:n.*931A>C | |
| NR_158990.1:n.1893A>C | ||
| NR_158991.1:n.2027A>C |