Linked Data
dbSNP Id:
rs12446956
gnomAD v2:
16-73501536-T-C
gnomAD v3:
16-73467637-T-C
gnomAD v4:
16-73467637-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.73467637T>C , CM000678.2:g.73467637T>C | GRCh38 |
| NC_000016.9:g.73501536T>C , CM000678.1:g.73501536T>C | GRCh37 |
| NC_000016.8:g.72059037T>C | NCBI36 |
| NG_013211.2:g.429295A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641206.2:c.-1546-11379A>G | ENSP00000493252.1:n.-1546-11379A>G | |
| XM_024450275.1:c.-493-11379A>G | XP_024306043.1:n.-493-11379A>G | |
| NM_001386735.1:c.-1063-11379A>G | NP_001373664.1:n.-1063-11379A>G |