Linked Data
ClinVar Variation Id:
371344
dbSNP Id:
rs201201443
ExAC:
1:100350260 G / T
gnomAD v2:
1-100350260-G-T
gnomAD v3:
1-99884704-G-T
gnomAD v4:
1-99884704-G-T
PubMed:
PMID:20648714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99884704G>T , CM000663.2:g.99884704G>T | GRCh38 |
| NC_000001.10:g.100350260G>T , CM000663.1:g.100350260G>T | GRCh37 |
| NC_000001.9:g.100122848G>T | NCBI36 |
| NG_012865.1:g.39621G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.2681+1G>T MANE Select | ENSP00000355106.3:n.2681+1G>T | |
| ENST00000637337.1:n.2892+1G>T | ||
| ENST00000294724.8:c.2681+1G>T | ENSP00000294724.4:n.2681+1G>T | |
| ENST00000361302.7:c.2633+1G>T | ENSP00000354971.3:n.2633+1G>T | |
| ENST00000361522.4:c.2630+1G>T | ENSP00000354635.4:n.2630+1G>T | |
| ENST00000361915.7:c.2681+1G>T | ENSP00000355106.3:n.2681+1G>T | |
| ENST00000370161.6:c.2633+1G>T | ENSP00000359180.2:n.2633+1G>T | |
| ENST00000370163.7:c.2681+1G>T | ENSP00000359182.3:n.2681+1G>T | |
| ENST00000370165.7:c.2681+1G>T | ENSP00000359184.3:n.2681+1G>T | |
| NM_000028.2:c.2681+1G>T | NP_000019.2:n.2681+1G>T | |
| NM_000642.2:c.2681+1G>T | NP_000633.2:n.2681+1G>T | |
| NM_000643.2:c.2681+1G>T | NP_000634.2:n.2681+1G>T | |
| NM_000644.2:c.2681+1G>T | NP_000635.2:n.2681+1G>T | |
| NM_000645.2:c.2630+1G>T | NP_000636.2:n.2630+1G>T | |
| NM_000646.2:c.2633+1G>T | NP_000637.2:n.2633+1G>T | |
| XM_005270557.1:c.2681+1G>T | XP_005270614.1:n.2681+1G>T | |
| XM_005270557.2:c.2681+1G>T | XP_005270614.1:n.2681+1G>T | |
| XM_017000501.2:c.941+1G>T | XP_016855990.1:n.941+1G>T | |
| NM_000642.3:c.2681+1G>T MANE Select | NP_000633.2:n.2681+1G>T |