Linked Data
ClinVar Variation Id:
414354
dbSNP Id:
rs376510352
ExAC:
5:13701447 G / A
gnomAD v2:
5-13701447-G-A
gnomAD v3:
5-13701338-G-A
gnomAD v4:
5-13701338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701338G>A , CM000667.2:g.13701338G>A | GRCh38 |
| NC_000005.9:g.13701447G>A , CM000667.1:g.13701447G>A | GRCh37 |
| NC_000005.8:g.13754447G>A | NCBI36 |
| NG_013081.1:g.248143C>T | |
| NG_013081.2:g.248143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.770C>T | ||
| ENST00000265104.5:c.13437C>T MANE Select | ENSP00000265104.4:p.Cys4479= | |
| ENST00000681290.1:c.13392C>T | ENSP00000505288.1:p.Cys4464= | |
| ENST00000265104.4:c.13437C>T | ENSP00000265104.4:p.Cys4479= | |
| NM_001369.2:c.13437C>T | NP_001360.1:p.Cys4479= | |
| XM_005248262.2:c.13392C>T | XP_005248319.1:p.Cys4464= | |
| XM_005248262.3:c.13545C>T | XP_005248319.2:p.Cys4515= | |
| XM_017009177.1:c.13125C>T | XP_016864666.1:p.Cys4375= | |
| XM_017009178.1:c.12450C>T | XP_016864667.1:p.Cys4150= | |
| XM_017009179.2:c.12450C>T | XP_016864668.1:p.Cys4150= | |
| XM_017009185.1:c.8634C>T | XP_016864674.1:p.Cys2878= | |
| XM_017009186.1:c.8187C>T | XP_016864675.1:p.Cys2729= | |
| XM_017009188.1:c.7524C>T | XP_016864677.1:p.Cys2508= | |
| XM_024454388.1:c.12450C>T | XP_024310156.1:p.Cys4150= | |
| XM_024454389.1:c.12039C>T | XP_024310157.1:p.Cys4013= | |
| NM_001369.3:c.13437C>T MANE Select | NP_001360.1:p.Cys4479= |