Linked Data
ClinVar Variation Id:
36839
dbSNP Id:
rs193922482
gnomAD v3:
17-37704931-A-G
gnomAD v4:
17-37704931-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37704931A>G , CM000679.2:g.37704931A>G | GRCh38 |
| NC_000017.10:g.36064938A>G , CM000679.1:g.36064938A>G | GRCh37 |
| NC_000017.9:g.33139051A>G | NCBI36 |
| NG_013019.2:g.45176T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1325T>C MANE Select | ENSP00000480291.1:p.Met442Thr | |
| ENST00000613727.4:c.1247T>C | ENSP00000477524.1:p.Met416Thr | |
| ENST00000614313.4:c.1325T>C | ENSP00000482529.1:p.Met442Thr | |
| ENST00000617272.4:c.*48T>C | ENSP00000478682.1:n.*48T>C | |
| ENST00000617811.4:c.1325T>C | ENSP00000480291.1:p.Met442Thr | |
| ENST00000621123.4:c.1247T>C | ENSP00000482711.1:p.Met416Thr | |
| NM_000458.3:c.1325T>C | NP_000449.1:p.Met442Thr | |
| NM_001165923.3:c.1247T>C | NP_001159395.1:p.Met416Thr | |
| NM_001304286.1:c.1247T>C | NP_001291215.1:p.Met416Thr | |
| XM_011525160.1:c.1325T>C | XP_011523462.1:p.Met442Thr | |
| XM_011525161.1:c.1325T>C | XP_011523463.1:p.Met442Thr | |
| XM_011525164.1:c.1247T>C | XP_011523466.1:p.Met416Thr | |
| XR_001752877.1:n.1469+116A>G | ||
| NM_000458.4:c.1325T>C MANE Select | NP_000449.1:p.Met442Thr | |
| NM_001165923.4:c.1247T>C | NP_001159395.1:p.Met416Thr | |
| NM_001304286.2:c.1247T>C | NP_001291215.1:p.Met416Thr |