Linked Data
ClinVar Variation Id:
1323498
ClinVar RCV Id:
RCV002541161
dbSNP Id:
rs145883811
ExAC:
5:177419920 G / C
gnomAD v2:
5-177419920-G-C
gnomAD v4:
5-177992919-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992919G>C , CM000667.2:g.177992919G>C | GRCh38 |
| NC_000005.9:g.177419920G>C , CM000667.1:g.177419920G>C | GRCh37 |
| NC_000005.8:g.177352526G>C | NCBI36 |
| NG_015889.1:g.8324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.471C>G MANE Select | ENSP00000311290.2:p.Tyr157Ter | |
| NM_006261.4:c.471C>G | NP_006252.3:p.Tyr157Ter | |
| NM_006261.5:c.471C>G MANE Select | NP_006252.4:p.Tyr157Ter |