Linked Data
ClinVar Variation Id:
594194
dbSNP Id:
rs756405444
ExAC:
18:21148839 C / T
gnomAD v2:
18-21148839-C-T
gnomAD v3:
18-23568875-C-T
gnomAD v4:
18-23568875-C-T
COSMIC:
COSM3422093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23568875C>T , CM000680.2:g.23568875C>T | GRCh38 |
| NC_000018.9:g.21148839C>T , CM000680.1:g.21148839C>T | GRCh37 |
| NC_000018.8:g.19402837C>T | NCBI36 |
| NG_012795.1:g.22743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.411G>A MANE Select | ENSP00000269228.4:p.Thr137= | |
| ENST00000269228.9:c.411G>A | ENSP00000269228.4:p.Thr137= | |
| ENST00000540608.5:n.325G>A | ||
| NM_000271.4:c.411G>A | NP_000262.2:p.Thr137= | |
| XM_005258277.1:c.411G>A | XP_005258334.1:p.Thr137= | |
| XM_005258278.3:c.411G>A | XP_005258335.1:p.Thr137= | |
| XM_005258279.1:c.411G>A | XP_005258336.1:p.Thr137= | |
| XM_006722479.2:c.411G>A | XP_006722542.1:p.Thr137= | |
| XM_011526015.1:c.-55G>A | XP_011524317.1:n.-55G>A | |
| XM_005258278.5:c.411G>A | XP_005258335.1:p.Thr137= | |
| XM_005258279.2:c.411G>A | XP_005258336.1:p.Thr137= | |
| XM_006722479.3:c.411G>A | XP_006722542.1:p.Thr137= | |
| XM_017025784.1:c.411G>A | XP_016881273.1:p.Thr137= | |
| XM_017025785.1:c.411G>A | XP_016881274.1:p.Thr137= | |
| XM_017025786.1:c.411G>A | XP_016881275.1:p.Thr137= | |
| XM_017025787.1:c.411G>A | XP_016881276.1:p.Thr137= | |
| NM_000271.5:c.411G>A MANE Select | NP_000262.2:p.Thr137= |