Linked Data
gnomAD v4:
5-13752227-C-T
COSMIC:
COSM1061257
MyVariant Identifiers:
chr5:g.13752336C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752227C>T , CM000667.2:g.13752227C>T | GRCh38 |
| NC_000005.9:g.13752336C>T , CM000667.1:g.13752336C>T | GRCh37 |
| NC_000005.8:g.13805336C>T | NCBI36 |
| NG_013081.1:g.197254G>A | |
| NG_013081.2:g.197254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10935G>A MANE Select | ENSP00000265104.4:p.Arg3645= | |
| ENST00000681290.1:c.10890G>A | ENSP00000505288.1:p.Arg3630= | |
| ENST00000265104.4:c.10935G>A | ENSP00000265104.4:p.Arg3645= | |
| NM_001369.2:c.10935G>A | NP_001360.1:p.Arg3645= | |
| XM_005248262.2:c.10890G>A | XP_005248319.1:p.Arg3630= | |
| XM_005248262.3:c.11043G>A | XP_005248319.2:p.Arg3681= | |
| XM_017009177.1:c.11043G>A | XP_016864666.1:p.Arg3681= | |
| XM_017009178.1:c.9948G>A | XP_016864667.1:p.Arg3316= | |
| XM_017009179.2:c.9948G>A | XP_016864668.1:p.Arg3316= | |
| XM_017009180.1:c.11043G>A | XP_016864669.1:p.Arg3681= | |
| XM_017009181.1:c.11043G>A | XP_016864670.1:p.Arg3681= | |
| XM_017009182.1:c.11043G>A | XP_016864671.1:p.Arg3681= | |
| XM_017009185.1:c.6132G>A | XP_016864674.1:p.Arg2044= | |
| XM_017009186.1:c.5685G>A | XP_016864675.1:p.Arg1895= | |
| XM_017009188.1:c.5022G>A | XP_016864677.1:p.Arg1674= | |
| XM_024454388.1:c.9948G>A | XP_024310156.1:p.Arg3316= | |
| XM_024454389.1:c.9537G>A | XP_024310157.1:p.Arg3179= | |
| NM_001369.3:c.10935G>A MANE Select | NP_001360.1:p.Arg3645= |