Linked Data
ClinVar Variation Id:
1209650
ClinVar RCV Id:
RCV001578785
dbSNP Id:
rs747593363
ExAC:
13:101182406 G / A
gnomAD v2:
13-101182406-G-A
gnomAD v3:
13-100530152-G-A
gnomAD v4:
13-100530152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530152G>A , CM000675.2:g.100530152G>A | GRCh38 |
| NC_000013.10:g.101182406G>A , CM000675.1:g.101182406G>A | GRCh37 |
| NC_000013.9:g.99980407G>A | NCBI36 |
| NG_008768.1:g.446070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2173G>A MANE Select | ENSP00000365462.1:p.Val725Met | |
| ENST00000636366.1:c.1371G>A | ||
| ENST00000636475.1:c.1688G>A | ||
| ENST00000637657.1:c.1833G>A | ||
| ENST00000647303.1:c.*1657G>A | ENSP00000495663.1:n.*1657G>A | |
| ENST00000376279.7:c.2032G>A | ENSP00000365456.3:p.Val678Met | |
| ENST00000376285.5:c.2173G>A | ENSP00000365462.1:p.Val725Met | |
| ENST00000376286.8:c.2095G>A | ENSP00000365463.4:p.Val699Met | |
| ENST00000428969.1:c.322G>A | ENSP00000399413.1:p.Val108Met | |
| ENST00000458283.5:c.389G>A | ||
| NM_000282.3:c.2173G>A | NP_000273.2:p.Val725Met | |
| NM_001127692.2:c.2095G>A | NP_001121164.1:p.Val699Met | |
| NM_001178004.1:c.2032G>A | NP_001171475.1:p.Val678Met | |
| XR_931615.1:n.2030G>A | ||
| NM_001352605.1:c.2119G>A | NP_001339534.1:p.Val707Met | |
| NM_001352606.1:c.2029G>A | NP_001339535.1:p.Val677Met | |
| NM_001352607.1:c.1954G>A | NP_001339536.1:p.Val652Met | |
| NM_001352608.1:c.1951G>A | NP_001339537.1:p.Val651Met | |
| NM_001352610.1:c.1228G>A | NP_001339539.1:p.Val410Met | |
| NM_001352611.1:c.1174G>A | NP_001339540.1:p.Val392Met | |
| NM_001352612.1:c.1084G>A | NP_001339541.1:p.Val362Met | |
| NR_148027.1:n.2222G>A | ||
| NR_148028.1:n.2260G>A | ||
| NR_148029.1:n.2182G>A | ||
| NR_148030.1:n.2363G>A | ||
| NR_148031.1:n.2176G>A | ||
| XM_017020609.1:c.2074G>A | XP_016876098.1:p.Val692Met | |
| XM_017020613.1:c.*101G>A | XP_016876102.1:n.*101G>A | |
| XR_001749567.1:n.2353G>A | ||
| XR_001749568.1:n.2440G>A | ||
| XR_001749569.1:n.2299G>A | ||
| XR_001749576.1:n.1910G>A | ||
| XR_001749577.1:n.1807G>A | ||
| NM_000282.4:c.2173G>A MANE Select | NP_000273.2:p.Val725Met | |
| NM_001352605.2:c.2119G>A | NP_001339534.1:p.Val707Met | |
| NM_001352606.2:c.2029G>A | NP_001339535.1:p.Val677Met | |
| NM_001352607.2:c.1954G>A | NP_001339536.1:p.Val652Met | |
| NM_001352608.2:c.1951G>A | NP_001339537.1:p.Val651Met | |
| NM_001352610.2:c.1228G>A | NP_001339539.1:p.Val410Met | |
| NM_001352611.2:c.1174G>A | NP_001339540.1:p.Val392Met | |
| NM_001352612.2:c.1084G>A | NP_001339541.1:p.Val362Met | |
| NR_148027.2:n.2144G>A | ||
| NR_148028.2:n.2182G>A | ||
| NR_148029.2:n.2104G>A | ||
| NR_148030.2:n.2285G>A | ||
| NR_148031.2:n.2098G>A | ||
| NM_001127692.3:c.2095G>A | NP_001121164.1:p.Val699Met | |
| NM_001178004.2:c.2032G>A | NP_001171475.1:p.Val678Met |