Linked Data
dbSNP Id:
rs772282772
ExAC:
14:91738940 T / C
gnomAD v2:
14-91738940-T-C
gnomAD v4:
14-91272596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272596T>C , CM000676.2:g.91272596T>C | GRCh38 |
| NC_000014.8:g.91738940T>C , CM000676.1:g.91738940T>C | GRCh37 |
| NC_000014.7:g.90808693T>C | NCBI36 |
| NG_033118.1:g.150249A>G | |
| NG_033118.2:g.150249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.*29A>G MANE Select | ENSP00000374507.6:n.*29A>G | |
| ENST00000331194.8:c.*29A>G | ENSP00000330332.8:n.*29A>G | |
| ENST00000389857.10:c.*29A>G | ENSP00000374507.6:n.*29A>G | |
| ENST00000556726.5:c.2344A>G | ||
| NM_001080414.3:c.*29A>G | NP_001073883.2:n.*29A>G | |
| XM_011536796.1:c.*29A>G | XP_011535098.1:n.*29A>G | |
| XM_011536796.2:c.*29A>G | XP_011535098.1:n.*29A>G | |
| XM_017021336.1:c.*29A>G | XP_016876825.1:n.*29A>G | |
| NM_001080414.4:c.*29A>G MANE Select | NP_001073883.2:n.*29A>G |