Linked Data
ClinVar Variation Id:
1221429
ClinVar RCV Id:
RCV001597720
dbSNP Id:
rs2126642
gnomAD v2:
1-103405793-G-A
gnomAD v3:
1-102940237-G-A
gnomAD v4:
1-102940237-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102940237G>A , CM000663.2:g.102940237G>A | GRCh38 |
| NC_000001.10:g.103405793G>A , CM000663.1:g.103405793G>A | GRCh37 |
| NC_000001.9:g.103178381G>A | NCBI36 |
| NG_008033.1:g.173260C>T | |
| NG_008033.2:g.173260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370096.9:c.3384+90C>T MANE Select | ENSP00000359114.3:n.3384+90C>T | |
| ENST00000353414.8:c.3267+90C>T | ENSP00000302551.6:n.3267+90C>T | |
| ENST00000358392.6:c.3420+90C>T | ENSP00000351163.2:n.3420+90C>T | |
| ENST00000370096.7:c.3384+90C>T | ENSP00000359114.3:n.3384+90C>T | |
| ENST00000512756.5:c.3036+90C>T | ENSP00000426533.1:n.3036+90C>T | |
| ENST00000635193.1:c.2718+90C>T | ||
| NM_001190709.1:c.3267+90C>T | NP_001177638.1:n.3267+90C>T | |
| NM_001854.3:c.3384+90C>T | NP_001845.3:n.3384+90C>T | |
| NM_080629.2:c.3420+90C>T | NP_542196.2:n.3420+90C>T | |
| NM_080630.3:c.3036+90C>T | NP_542197.3:n.3036+90C>T | |
| XM_011540719.1:c.3384+90C>T | XP_011539021.1:n.3384+90C>T | |
| XM_011540720.1:c.1617+90C>T | XP_011539022.1:n.1617+90C>T | |
| XM_011540721.1:c.972+90C>T | XP_011539023.1:n.972+90C>T | |
| NR_134980.1:n.3718+90C>T | ||
| XM_017000334.1:c.3537+90C>T | XP_016855823.1:n.3537+90C>T | |
| XM_017000335.1:c.3531+90C>T | XP_016855824.1:n.3531+90C>T | |
| XM_017000336.1:c.3537+90C>T | XP_016855825.1:n.3537+90C>T | |
| XM_017000337.1:c.1935+90C>T | XP_016855826.1:n.1935+90C>T | |
| NM_001854.4:c.3384+90C>T MANE Select | NP_001845.3:n.3384+90C>T | |
| NM_080630.4:c.3036+90C>T | NP_542197.3:n.3036+90C>T | |
| NR_134980.2:n.3744+90C>T | ||
| NM_001190709.2:c.3267+90C>T | NP_001177638.1:n.3267+90C>T | |
| NM_080629.3:c.3420+90C>T | NP_542196.2:n.3420+90C>T |