Linked Data
dbSNP Id:
rs960033148
gnomAD v2:
17-6599320-G-A
gnomAD v3:
17-6696001-G-A
gnomAD v4:
17-6696001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6696001G>A , CM000679.2:g.6696001G>A | GRCh38 |
| NC_000017.10:g.6599320G>A , CM000679.1:g.6599320G>A | GRCh37 |
| NC_000017.9:g.6540044G>A | NCBI36 |
| NG_034220.1:g.22421C>T , LRG_1020:g.22421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.840-60C>T MANE Select | ENSP00000406220.2:n.840-60C>T | |
| ENST00000293800.10:c.789-60C>T | ENSP00000293800.6:n.789-60C>T | |
| ENST00000381074.8:c.711-60C>T | ENSP00000370464.4:n.711-60C>T | |
| ENST00000433363.6:c.840-60C>T | ENSP00000406220.2:n.840-60C>T | |
| ENST00000572094.1:c.*590-60C>T | ENSP00000461495.1:n.*590-60C>T | |
| ENST00000573648.5:c.840-60C>T | ENSP00000459372.1:n.840-60C>T | |
| ENST00000574824.5:n.1973-60C>T | ||
| NM_001143838.2:c.840-60C>T | NP_001137310.1:n.840-60C>T | |
| NM_001284509.1:c.789-60C>T | NP_001271438.1:n.789-60C>T | |
| NM_001284510.1:c.711-60C>T | NP_001271439.1:n.711-60C>T | |
| NM_177550.4:c.840-60C>T , LRG_1020t1:c.840-60C>T | NP_808218.1:n.840-60C>T | |
| XM_006721504.2:c.729-60C>T | XP_006721567.1:n.729-60C>T | |
| XM_011523795.1:c.840-60C>T | XP_011522097.1:n.840-60C>T | |
| XM_011523795.3:c.840-60C>T | XP_011522097.1:n.840-60C>T | |
| NM_001143838.3:c.840-60C>T | NP_001137310.1:n.840-60C>T | |
| NM_001284509.2:c.789-60C>T | NP_001271438.1:n.789-60C>T | |
| NM_001284510.2:c.711-60C>T | NP_001271439.1:n.711-60C>T | |
| NM_177550.5:c.840-60C>T MANE Select | NP_808218.1:n.840-60C>T |