Linked Data
ClinVar Variation Id:
258074
dbSNP Id:
rs143858741
ExAC:
5:13766245 C / T
gnomAD v2:
5-13766245-C-T
gnomAD v3:
5-13766136-C-T
gnomAD v4:
5-13766136-C-T
COSMIC:
COSM1061299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13766136C>T , CM000667.2:g.13766136C>T | GRCh38 |
| NC_000005.9:g.13766245C>T , CM000667.1:g.13766245C>T | GRCh37 |
| NC_000005.8:g.13819245C>T | NCBI36 |
| NG_013081.1:g.183345G>A | |
| NG_013081.2:g.183345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9941G>A MANE Select | ENSP00000265104.4:p.Arg3314His | |
| ENST00000681290.1:c.9896G>A | ENSP00000505288.1:p.Arg3299His | |
| ENST00000265104.4:c.9941G>A | ENSP00000265104.4:p.Arg3314His | |
| ENST00000504001.3:n.609+2824G>A | ||
| NM_001369.2:c.9941G>A | NP_001360.1:p.Arg3314His | |
| XM_005248262.2:c.9896G>A | XP_005248319.1:p.Arg3299His | |
| XM_005248262.3:c.10049G>A | XP_005248319.2:p.Arg3350His | |
| XM_017009177.1:c.10049G>A | XP_016864666.1:p.Arg3350His | |
| XM_017009178.1:c.8954G>A | XP_016864667.1:p.Arg2985His | |
| XM_017009179.2:c.8954G>A | XP_016864668.1:p.Arg2985His | |
| XM_017009180.1:c.10049G>A | XP_016864669.1:p.Arg3350His | |
| XM_017009181.1:c.10049G>A | XP_016864670.1:p.Arg3350His | |
| XM_017009182.1:c.10049G>A | XP_016864671.1:p.Arg3350His | |
| XM_017009185.1:c.5138G>A | XP_016864674.1:p.Arg1713His | |
| XM_017009186.1:c.4691G>A | XP_016864675.1:p.Arg1564His | |
| XM_017009188.1:c.4028G>A | XP_016864677.1:p.Arg1343His | |
| XM_024454388.1:c.8954G>A | XP_024310156.1:p.Arg2985His | |
| XM_024454389.1:c.8543G>A | XP_024310157.1:p.Arg2848His | |
| NM_001369.3:c.9941G>A MANE Select | NP_001360.1:p.Arg3314His |