Linked Data
ClinVar Variation Id:
312908
ClinVar RCV Id:
RCV000261424
RCV000309715
RCV000315322
RCV000369030
RCV001094094
RCV001184781
RCV001706477
RCV001699445
RCV003320168
dbSNP Id:
rs377722048
ExAC:
14:23893311 G / T
gnomAD v2:
14-23893311-G-T
gnomAD v3:
14-23424102-G-T
gnomAD v4:
14-23424102-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424102G>T , CM000676.2:g.23424102G>T | GRCh38 |
| NC_000014.8:g.23893311G>T , CM000676.1:g.23893311G>T | GRCh37 |
| NC_000014.7:g.22963151G>T | NCBI36 |
| NG_007884.1:g.16560C>A , LRG_384:g.16560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2727C>A MANE Select | ENSP00000347507.3:p.Ile909= | |
| ENST00000355349.3:c.2727C>A | ENSP00000347507.3:p.Ile909= | |
| NM_000257.3:c.2727C>A | NP_000248.2:p.Ile909= | |
| XR_245686.3:n.2833C>A | ||
| XM_017021340.1:c.2727C>A | XP_016876829.1:p.Ile909= | |
| NM_000257.4:c.2727C>A MANE Select | NP_000248.2:p.Ile909= |