Linked Data
ClinVar Variation Id:
135563
ClinVar RCV Id:
RCV000254762
RCV000122423
RCV000763338
RCV000778237
RCV000801559
RCV000851882
RCV001330057
RCV000586535
dbSNP Id:
rs146249964
ExAC:
1:43803600 T / A
gnomAD v2:
1-43803600-T-A
gnomAD v3:
1-43337929-T-A
gnomAD v4:
1-43337929-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43337929T>A , CM000663.2:g.43337929T>A | GRCh38 |
| NC_000001.10:g.43803600T>A , CM000663.1:g.43803600T>A | GRCh37 |
| NC_000001.9:g.43576187T>A | NCBI36 |
| NG_007525.1:g.5126T>A , LRG_510:g.5126T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.79+2T>A MANE Select | ENSP00000361548.3:n.79+2T>A | |
| ENST00000413998.7:c.79+2T>A | ENSP00000414004.3:n.79+2T>A | |
| ENST00000638732.1:n.79+2T>A | ||
| ENST00000372470.7:c.79+2T>A | ENSP00000361548.3:n.79+2T>A | |
| ENST00000413998.6:c.79+2T>A | ENSP00000414004.2:n.79+2T>A | |
| ENST00000612993.1:c.79+2T>A | ENSP00000480273.1:n.79+2T>A | |
| NM_005373.2:c.79+2T>A , LRG_510t1:c.79+2T>A | NP_005364.1:n.79+2T>A | |
| XM_011541478.1:c.79+2T>A | XP_011539780.1:n.79+2T>A | |
| XM_017001320.1:c.81T>A | XP_016856809.1:p.Gly27= | |
| NM_005373.3:c.79+2T>A MANE Select | NP_005364.1:n.79+2T>A |