Linked Data
ClinVar Variation Id:
351044
dbSNP Id:
rs779977337
ExAC:
5:13753574 C / T
gnomAD v2:
5-13753574-C-T
gnomAD v3:
5-13753465-C-T
gnomAD v4:
5-13753465-C-T
COSMIC:
COSM3850391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753465C>T , CM000667.2:g.13753465C>T | GRCh38 |
| NC_000005.9:g.13753574C>T , CM000667.1:g.13753574C>T | GRCh37 |
| NC_000005.8:g.13806574C>T | NCBI36 |
| NG_013081.1:g.196016G>A | |
| NG_013081.2:g.196016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10640G>A MANE Select | ENSP00000265104.4:p.Arg3547Gln | |
| ENST00000681290.1:c.10595G>A | ENSP00000505288.1:p.Arg3532Gln | |
| ENST00000265104.4:c.10640G>A | ENSP00000265104.4:p.Arg3547Gln | |
| NM_001369.2:c.10640G>A | NP_001360.1:p.Arg3547Gln | |
| XM_005248262.2:c.10595G>A | XP_005248319.1:p.Arg3532Gln | |
| XM_005248262.3:c.10748G>A | XP_005248319.2:p.Arg3583Gln | |
| XM_017009177.1:c.10748G>A | XP_016864666.1:p.Arg3583Gln | |
| XM_017009178.1:c.9653G>A | XP_016864667.1:p.Arg3218Gln | |
| XM_017009179.2:c.9653G>A | XP_016864668.1:p.Arg3218Gln | |
| XM_017009180.1:c.10748G>A | XP_016864669.1:p.Arg3583Gln | |
| XM_017009181.1:c.10748G>A | XP_016864670.1:p.Arg3583Gln | |
| XM_017009182.1:c.10748G>A | XP_016864671.1:p.Arg3583Gln | |
| XM_017009185.1:c.5837G>A | XP_016864674.1:p.Arg1946Gln | |
| XM_017009186.1:c.5390G>A | XP_016864675.1:p.Arg1797Gln | |
| XM_017009188.1:c.4727G>A | XP_016864677.1:p.Arg1576Gln | |
| XM_024454388.1:c.9653G>A | XP_024310156.1:p.Arg3218Gln | |
| XM_024454389.1:c.9242G>A | XP_024310157.1:p.Arg3081Gln | |
| NM_001369.3:c.10640G>A MANE Select | NP_001360.1:p.Arg3547Gln |