Linked Data
dbSNP Id:
rs371059456
ExAC:
16:89246002 A / C
gnomAD v2:
16-89246002-A-C
gnomAD v4:
16-89179594-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179594A>C , CM000678.2:g.89179594A>C | GRCh38 |
| NC_000016.9:g.89246002A>C , CM000678.1:g.89246002A>C | GRCh37 |
| NC_000016.8:g.87773503A>C | NCBI36 |
| NG_012055.1:g.12840A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.201+20A>C MANE Select | ENSP00000289746.2:n.201+20A>C | |
| ENST00000289746.2:c.201+20A>C | ENSP00000289746.2:n.201+20A>C | |
| ENST00000521087.5:n.266+20A>C | ||
| ENST00000524089.1:n.266+20A>C | ||
| NM_004933.2:c.201+20A>C | NP_004924.1:n.201+20A>C | |
| XM_011522806.1:c.201+20A>C | XP_011521108.1:n.201+20A>C | |
| NM_004933.3:c.201+20A>C MANE Select | NP_004924.1:n.201+20A>C |