Linked Data
ClinVar Variation Id:
2791546
ClinVar RCV Id:
RCV003647314
MyVariant Identifiers:
chr5:g.13701402T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701293T>G , CM000667.2:g.13701293T>G | GRCh38 |
| NC_000005.9:g.13701402T>G , CM000667.1:g.13701402T>G | GRCh37 |
| NC_000005.8:g.13754402T>G | NCBI36 |
| NG_013081.1:g.248188A>C | |
| NG_013081.2:g.248188A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.815A>C | ||
| ENST00000265104.5:c.13482A>C MANE Select | ENSP00000265104.4:p.Ala4494= | |
| ENST00000681290.1:c.13437A>C | ENSP00000505288.1:p.Ala4479= | |
| ENST00000265104.4:c.13482A>C | ENSP00000265104.4:p.Ala4494= | |
| NM_001369.2:c.13482A>C | NP_001360.1:p.Ala4494= | |
| XM_005248262.2:c.13437A>C | XP_005248319.1:p.Ala4479= | |
| XM_005248262.3:c.13590A>C | XP_005248319.2:p.Ala4530= | |
| XM_017009177.1:c.13170A>C | XP_016864666.1:p.Ala4390= | |
| XM_017009178.1:c.12495A>C | XP_016864667.1:p.Ala4165= | |
| XM_017009179.2:c.12495A>C | XP_016864668.1:p.Ala4165= | |
| XM_017009185.1:c.8679A>C | XP_016864674.1:p.Ala2893= | |
| XM_017009186.1:c.8232A>C | XP_016864675.1:p.Ala2744= | |
| XM_017009188.1:c.7569A>C | XP_016864677.1:p.Ala2523= | |
| XM_024454388.1:c.12495A>C | XP_024310156.1:p.Ala4165= | |
| XM_024454389.1:c.12084A>C | XP_024310157.1:p.Ala4028= | |
| NM_001369.3:c.13482A>C MANE Select | NP_001360.1:p.Ala4494= |