Linked Data
dbSNP Id:
rs775621546
ExAC:
5:177419844 C / T
gnomAD v2:
5-177419844-C-T
gnomAD v3:
5-177992843-C-T
gnomAD v4:
5-177992843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992843C>T , CM000667.2:g.177992843C>T | GRCh38 |
| NC_000005.9:g.177419844C>T , CM000667.1:g.177419844C>T | GRCh37 |
| NC_000005.8:g.177352450C>T | NCBI36 |
| NG_015889.1:g.8400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.547G>A MANE Select | ENSP00000311290.2:p.Gly183Ser | |
| NM_006261.4:c.547G>A | NP_006252.3:p.Gly183Ser | |
| NM_006261.5:c.547G>A MANE Select | NP_006252.4:p.Gly183Ser |