Linked Data
ClinVar Variation Id:
1101669
ClinVar RCV Id:
RCV001424678
dbSNP Id:
rs200555581
gnomAD v2:
5-13692189-C-G
gnomAD v4:
5-13692080-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692080C>G , CM000667.2:g.13692080C>G | GRCh38 |
| NC_000005.9:g.13692189C>G , CM000667.1:g.13692189C>G | GRCh37 |
| NC_000005.8:g.13745189C>G | NCBI36 |
| NG_013081.1:g.257401G>C | |
| NG_013081.2:g.257401G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1112G>C | ||
| ENST00000265104.5:c.13779G>C MANE Select | ENSP00000265104.4:p.Thr4593= | |
| ENST00000681290.1:c.13734G>C | ENSP00000505288.1:p.Thr4578= | |
| ENST00000265104.4:c.13779G>C | ENSP00000265104.4:p.Thr4593= | |
| NM_001369.2:c.13779G>C | NP_001360.1:p.Thr4593= | |
| XM_005248262.2:c.13734G>C | XP_005248319.1:p.Thr4578= | |
| XM_005248262.3:c.13887G>C | XP_005248319.2:p.Thr4629= | |
| XM_017009177.1:c.13467G>C | XP_016864666.1:p.Thr4489= | |
| XM_017009178.1:c.12792G>C | XP_016864667.1:p.Thr4264= | |
| XM_017009179.2:c.12792G>C | XP_016864668.1:p.Thr4264= | |
| XM_017009185.1:c.8976G>C | XP_016864674.1:p.Thr2992= | |
| XM_017009186.1:c.8529G>C | XP_016864675.1:p.Thr2843= | |
| XM_017009188.1:c.7866G>C | XP_016864677.1:p.Thr2622= | |
| XM_024454388.1:c.12792G>C | XP_024310156.1:p.Thr4264= | |
| XM_024454389.1:c.12381G>C | XP_024310157.1:p.Thr4127= | |
| NM_001369.3:c.13779G>C MANE Select | NP_001360.1:p.Thr4593= |