Linked Data
ClinVar Variation Id:
324156
dbSNP Id:
rs185405908
gnomAD v2:
17-56283118-C-A
gnomAD v3:
17-58205757-C-A
gnomAD v4:
17-58205757-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58205757C>A , CM000679.2:g.58205757C>A | GRCh38 |
| NC_000017.10:g.56283118C>A , CM000679.1:g.56283118C>A | GRCh37 |
| NC_000017.9:g.53638117C>A | NCBI36 |
| NG_013020.1:g.18030C>A | |
| NG_013032.1:g.18849G>T , LRG_687:g.18849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.*414G>T | ENSP00000316631.6:n.*414G>T | |
| ENST00000393119.7:c.*322G>T MANE Select | ENSP00000376827.2:n.*322G>T | |
| ENST00000537529.7:c.*322G>T | ENSP00000442096.3:n.*322G>T | |
| ENST00000675753.2:c.*1621G>T | ENSP00000502156.1:n.*1621G>T | |
| ENST00000676787.1:c.*322G>T | ENSP00000503999.1:n.*322G>T | |
| ENST00000677111.1:c.*1476G>T | ENSP00000504282.1:n.*1476G>T | |
| ENST00000677160.1:n.3276G>T | ||
| ENST00000677416.1:n.3323G>T | ||
| ENST00000677486.1:c.*1346G>T | ENSP00000503852.1:n.*1346G>T | |
| ENST00000677709.1:n.2702G>T | ||
| ENST00000678011.1:n.2902G>T | ||
| ENST00000678432.1:c.*1776G>T | ENSP00000504452.1:n.*1776G>T | |
| ENST00000678463.1:c.*233G>T | ENSP00000502984.1:n.*233G>T | |
| ENST00000678568.1:c.*1326G>T | ENSP00000504754.1:n.*1326G>T | |
| ENST00000678641.1:c.*1346G>T | ENSP00000503159.1:n.*1346G>T | |
| ENST00000678763.1:n.2317G>T | ||
| ENST00000313863.10:c.*414G>T | ENSP00000316631.6:n.*414G>T | |
| ENST00000393119.6:c.*322G>T | ENSP00000376827.2:n.*322G>T | |
| ENST00000393120.6:c.*1409G>T | ENSP00000376828.2:n.*1409G>T | |
| ENST00000537529.6:c.*322G>T | ENSP00000442096.2:n.*322G>T | |
| NM_001165927.1:c.*322G>T , LRG_687t2:c.*322G>T | NP_001159399.1:n.*322G>T | |
| NM_017777.3:c.*322G>T , LRG_687t1:c.*322G>T | NP_060247.2:n.*322G>T | |
| XM_005257483.3:c.*233G>T | XP_005257540.1:n.*233G>T | |
| XM_005257485.3:c.*233G>T | XP_005257542.1:n.*233G>T | |
| XM_005257486.3:c.*322G>T | XP_005257543.1:n.*322G>T | |
| XM_006721965.2:c.*233G>T | XP_006722028.1:n.*233G>T | |
| XM_011524957.1:c.*233G>T | XP_011523259.1:n.*233G>T | |
| XM_011524958.1:c.*322G>T | XP_011523260.1:n.*322G>T | |
| XM_011524959.1:c.*414G>T | XP_011523261.1:n.*414G>T | |
| NM_001321268.1:c.*322G>T | NP_001308197.1:n.*322G>T | |
| NM_001321269.1:c.*233G>T | NP_001308198.1:n.*233G>T | |
| NM_001330397.1:c.*414G>T | NP_001317326.1:n.*414G>T | |
| XM_005257485.4:c.*233G>T | XP_005257542.1:n.*233G>T | |
| XM_006721965.3:c.*233G>T | XP_006722028.1:n.*233G>T | |
| XM_011524957.2:c.*233G>T | XP_011523259.1:n.*233G>T | |
| XM_011524958.2:c.*322G>T | XP_011523260.1:n.*322G>T | |
| XM_011524959.2:c.*414G>T | XP_011523261.1:n.*414G>T | |
| XM_017024805.1:c.*322G>T | XP_016880294.1:n.*322G>T | |
| XR_002958042.1:n.1930G>T | ||
| NM_001321268.2:c.*322G>T | NP_001308197.1:n.*322G>T | |
| NM_001321269.2:c.*233G>T | NP_001308198.1:n.*233G>T | |
| NM_001330397.2:c.*414G>T | NP_001317326.1:n.*414G>T | |
| NM_017777.4:c.*322G>T MANE Select | NP_060247.2:n.*322G>T |