Linked Data
ClinVar Variation Id:
216085
ClinVar RCV Id:
RCV000198869
dbSNP Id:
rs863224504
gnomAD v2:
5-13770961-G-A
gnomAD v3:
5-13770852-G-A
gnomAD v4:
5-13770852-G-A
COSMIC:
COSM1486323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770852G>A , CM000667.2:g.13770852G>A | GRCh38 |
| NC_000005.9:g.13770961G>A , CM000667.1:g.13770961G>A | GRCh37 |
| NC_000005.8:g.13823961G>A | NCBI36 |
| NG_013081.1:g.178629C>T | |
| NG_013081.2:g.178629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9502C>T MANE Select | ENSP00000265104.4:p.Arg3168Ter | |
| ENST00000681290.1:c.9457C>T | ENSP00000505288.1:p.Arg3153Ter | |
| ENST00000265104.4:c.9502C>T | ENSP00000265104.4:p.Arg3168Ter | |
| ENST00000504001.3:n.214C>T | ||
| NM_001369.2:c.9502C>T | NP_001360.1:p.Arg3168Ter | |
| XM_005248262.2:c.9457C>T | XP_005248319.1:p.Arg3153Ter | |
| XM_005248262.3:c.9610C>T | XP_005248319.2:p.Arg3204Ter | |
| XM_017009177.1:c.9610C>T | XP_016864666.1:p.Arg3204Ter | |
| XM_017009178.1:c.8515C>T | XP_016864667.1:p.Arg2839Ter | |
| XM_017009179.2:c.8515C>T | XP_016864668.1:p.Arg2839Ter | |
| XM_017009180.1:c.9610C>T | XP_016864669.1:p.Arg3204Ter | |
| XM_017009181.1:c.9610C>T | XP_016864670.1:p.Arg3204Ter | |
| XM_017009182.1:c.9610C>T | XP_016864671.1:p.Arg3204Ter | |
| XM_017009183.1:c.9610C>T | XP_016864672.1:p.Arg3204Ter | |
| XM_017009185.1:c.4699C>T | XP_016864674.1:p.Arg1567Ter | |
| XM_017009186.1:c.4252C>T | XP_016864675.1:p.Arg1418Ter | |
| XM_017009188.1:c.3589C>T | XP_016864677.1:p.Arg1197Ter | |
| XM_024454388.1:c.8515C>T | XP_024310156.1:p.Arg2839Ter | |
| XM_024454389.1:c.8104C>T | XP_024310157.1:p.Arg2702Ter | |
| NM_001369.3:c.9502C>T MANE Select | NP_001360.1:p.Arg3168Ter |