Linked Data
ClinVar Variation Id:
3083981
ClinVar RCV Id:
RCV004376787
dbSNP Id:
rs763286954
ExAC:
5:13708305 A / G
gnomAD v2:
5-13708305-A-G
gnomAD v4:
5-13708196-A-G
COSMIC:
COSM3850316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708196A>G , CM000667.2:g.13708196A>G | GRCh38 |
| NC_000005.9:g.13708305A>G , CM000667.1:g.13708305A>G | GRCh37 |
| NC_000005.8:g.13761305A>G | NCBI36 |
| NG_013081.1:g.241285T>C | |
| NG_013081.2:g.241285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.598T>C | ||
| ENST00000265104.5:c.13265T>C MANE Select | ENSP00000265104.4:p.Ile4422Thr | |
| ENST00000681290.1:c.13220T>C | ENSP00000505288.1:p.Ile4407Thr | |
| ENST00000265104.4:c.13265T>C | ENSP00000265104.4:p.Ile4422Thr | |
| NM_001369.2:c.13265T>C | NP_001360.1:p.Ile4422Thr | |
| XM_005248262.2:c.13220T>C | XP_005248319.1:p.Ile4407Thr | |
| XM_005248262.3:c.13373T>C | XP_005248319.2:p.Ile4458Thr | |
| XM_017009177.1:c.12953T>C | XP_016864666.1:p.Ile4318Thr | |
| XM_017009178.1:c.12278T>C | XP_016864667.1:p.Ile4093Thr | |
| XM_017009179.2:c.12278T>C | XP_016864668.1:p.Ile4093Thr | |
| XM_017009185.1:c.8462T>C | XP_016864674.1:p.Ile2821Thr | |
| XM_017009186.1:c.8015T>C | XP_016864675.1:p.Ile2672Thr | |
| XM_017009188.1:c.7352T>C | XP_016864677.1:p.Ile2451Thr | |
| XM_024454388.1:c.12278T>C | XP_024310156.1:p.Ile4093Thr | |
| XM_024454389.1:c.11867T>C | XP_024310157.1:p.Ile3956Thr | |
| NM_001369.3:c.13265T>C MANE Select | NP_001360.1:p.Ile4422Thr |