Linked Data
dbSNP Id:
rs761880834
ExAC:
5:56155739 G / C
gnomAD v2:
5-56155739-G-C
gnomAD v3:
5-56859912-G-C
gnomAD v4:
5-56859912-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859912G>C , CM000667.2:g.56859912G>C | GRCh38 |
| NC_000005.9:g.56155739G>C , CM000667.1:g.56155739G>C | GRCh37 |
| NC_000005.8:g.56191496G>C | NCBI36 |
| NG_031884.1:g.49840G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.831G>C MANE Select | ENSP00000382423.3:p.Val277= | |
| ENST00000399503.3:c.831G>C | ENSP00000382423.3:p.Val277= | |
| NM_005921.1:c.831G>C | NP_005912.1:p.Val277= | |
| XM_005248519.3:c.453G>C | XP_005248576.2:p.Val151= | |
| XM_011543406.1:c.576G>C | XP_011541708.1:p.Val192= | |
| XM_011543407.1:c.831G>C | XP_011541709.1:p.Val277= | |
| XM_011543408.1:c.831G>C | XP_011541710.1:p.Val277= | |
| XM_017009484.1:c.420G>C | XP_016864973.1:p.Val140= | |
| XM_017009485.1:c.342G>C | XP_016864974.1:p.Val114= | |
| XR_001742068.2:n.862G>C | ||
| NM_005921.2:c.831G>C MANE Select | NP_005912.1:p.Val277= |