Linked Data
dbSNP Id:
rs113703630
gnomAD v2:
16-227195-G-C
gnomAD v3:
16-177196-G-C
gnomAD v4:
16-177196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177196G>C , CM000678.2:g.177196G>C | GRCh38 |
| NC_000016.9:g.227195G>C , CM000678.1:g.227195G>C | GRCh37 |
| NC_000016.8:g.167195G>C | NCBI36 |
| NG_000006.1:g.38059G>C | |
| NG_059186.1:g.5546G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.300+63G>C MANE Select | ENSP00000322421.5:n.300+63G>C | |
| ENST00000397797.1:c.204+63G>C | ENSP00000380899.1:n.204+63G>C | |
| ENST00000472694.1:n.436+63G>C | ||
| ENST00000487791.1:n.332G>C | ||
| NM_000558.4:c.300+63G>C | NP_000549.1:n.300+63G>C | |
| NM_000558.5:c.300+63G>C MANE Select | NP_000549.1:n.300+63G>C |