Linked Data
dbSNP Id:
rs1062746
gnomAD v2:
16-87364650-T-C
gnomAD v3:
16-87331044-T-C
gnomAD v4:
16-87331044-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87331044T>C , CM000678.2:g.87331044T>C | GRCh38 |
| NC_000016.9:g.87364650T>C , CM000678.1:g.87364650T>C | GRCh37 |
| NC_000016.8:g.85922151T>C | NCBI36 |
| NG_047196.1:g.66064A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636077.2:c.*244A>G | ENSP00000490402.2:n.*244A>G | |
| ENST00000311635.12:c.*244A>G MANE Select | ENSP00000310841.4:n.*244A>G | |
| ENST00000618298.6:c.*244A>G | ENSP00000479703.1:n.*244A>G | |
| ENST00000311635.11:c.*244A>G | ENSP00000310841.4:n.*244A>G | |
| ENST00000565593.1:c.*570A>G | ENSP00000455772.1:n.*570A>G | |
| ENST00000568879.1:c.388+2842A>G | ||
| ENST00000618298.4:c.*244A>G | ENSP00000479703.1:n.*244A>G | |
| NM_001282683.1:c.*244A>G | NP_001269612.1:n.*244A>G | |
| NM_024735.4:c.*244A>G | NP_079011.3:n.*244A>G | |
| NM_024735.5:c.*244A>G MANE Select | NP_079011.3:n.*244A>G | |
| NM_001282683.2:c.*244A>G | NP_001269612.1:n.*244A>G |