Linked Data
ClinVar Variation Id:
351012
dbSNP Id:
rs762673561
ExAC:
5:13717498 C / T
gnomAD v2:
5-13717498-C-T
gnomAD v3:
5-13717389-C-T
gnomAD v4:
5-13717389-C-T
COSMIC:
COSM1061175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717389C>T , CM000667.2:g.13717389C>T | GRCh38 |
| NC_000005.9:g.13717498C>T , CM000667.1:g.13717498C>T | GRCh37 |
| NC_000005.8:g.13770498C>T | NCBI36 |
| NG_013081.1:g.232092G>A | |
| NG_013081.2:g.232092G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.12631G>A MANE Select | ENSP00000265104.4:p.Glu4211Lys | |
| ENST00000681290.1:c.12586G>A | ENSP00000505288.1:p.Glu4196Lys | |
| ENST00000265104.4:c.12631G>A | ENSP00000265104.4:p.Glu4211Lys | |
| NM_001369.2:c.12631G>A | NP_001360.1:p.Glu4211Lys | |
| XM_005248262.2:c.12586G>A | XP_005248319.1:p.Glu4196Lys | |
| XM_005248262.3:c.12739G>A | XP_005248319.2:p.Glu4247Lys | |
| XM_017009177.1:c.12739G>A | XP_016864666.1:p.Glu4247Lys | |
| XM_017009178.1:c.11644G>A | XP_016864667.1:p.Glu3882Lys | |
| XM_017009179.2:c.11644G>A | XP_016864668.1:p.Glu3882Lys | |
| XM_017009180.1:c.12739G>A | XP_016864669.1:p.Glu4247Lys | |
| XM_017009185.1:c.7828G>A | XP_016864674.1:p.Glu2610Lys | |
| XM_017009186.1:c.7381G>A | XP_016864675.1:p.Glu2461Lys | |
| XM_017009188.1:c.6718G>A | XP_016864677.1:p.Glu2240Lys | |
| XM_024454388.1:c.11644G>A | XP_024310156.1:p.Glu3882Lys | |
| XM_024454389.1:c.11233G>A | XP_024310157.1:p.Glu3745Lys | |
| NM_001369.3:c.12631G>A MANE Select | NP_001360.1:p.Glu4211Lys |