Linked Data
ClinVar Variation Id:
42983
ClinVar RCV Id:
RCV000035876
RCV000284335
RCV000342557
RCV000372626
RCV000391964
RCV001573770
RCV002054574
RCV002371824
RCV003320072
dbSNP Id:
rs3729820
ExAC:
14:23888371 G / A
gnomAD v2:
14-23888371-G-A
gnomAD v3:
14-23419162-G-A
gnomAD v4:
14-23419162-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419162G>A , CM000676.2:g.23419162G>A | GRCh38 |
| NC_000014.8:g.23888371G>A , CM000676.1:g.23888371G>A | GRCh37 |
| NC_000014.7:g.22958211G>A | NCBI36 |
| NG_007884.1:g.21500C>T , LRG_384:g.21500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3972+15C>T MANE Select | ENSP00000347507.3:n.3972+15C>T | |
| ENST00000355349.3:c.3972+15C>T | ENSP00000347507.3:n.3972+15C>T | |
| NM_000257.3:c.3972+15C>T | NP_000248.2:n.3972+15C>T | |
| XM_017021340.1:c.3972+15C>T | XP_016876829.1:n.3972+15C>T | |
| NM_000257.4:c.3972+15C>T MANE Select | NP_000248.2:n.3972+15C>T |