Linked Data
ClinVar Variation Id:
138380
ClinVar RCV Id:
RCV000126995
RCV000233427
RCV000265099
RCV000301315
RCV000353951
RCV000771155
RCV001094107
dbSNP Id:
rs529700838
ExAC:
14:23889159 G / A
gnomAD v2:
14-23889159-G-A
gnomAD v3:
14-23419950-G-A
gnomAD v4:
14-23419950-G-A
COSMIC:
COSM954760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419950G>A , CM000676.2:g.23419950G>A | GRCh38 |
| NC_000014.8:g.23889159G>A , CM000676.1:g.23889159G>A | GRCh37 |
| NC_000014.7:g.22958999G>A | NCBI36 |
| NG_007884.1:g.20712C>T , LRG_384:g.20712C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.3621C>T MANE Select | ENSP00000347507.3:p.Ile1207= | |
| ENST00000355349.3:c.3621C>T | ENSP00000347507.3:p.Ile1207= | |
| NM_000257.3:c.3621C>T | NP_000248.2:p.Ile1207= | |
| XM_017021340.1:c.3621C>T | XP_016876829.1:p.Ile1207= | |
| NM_000257.4:c.3621C>T MANE Select | NP_000248.2:p.Ile1207= |