Linked Data
ClinVar Variation Id:
42931
ClinVar RCV Id:
RCV000035823
RCV000232495
RCV000243521
RCV000283423
RCV000308026
RCV000344688
RCV000407486
RCV000726617
RCV000758023
RCV003320056
dbSNP Id:
rs36211716
ExAC:
14:23893269 G / A
gnomAD v2:
14-23893269-G-A
gnomAD v3:
14-23424060-G-A
gnomAD v4:
14-23424060-G-A
ERepo:
CA013030/MONDO:0004994/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424060G>A , CM000676.2:g.23424060G>A | GRCh38 |
| NC_000014.8:g.23893269G>A , CM000676.1:g.23893269G>A | GRCh37 |
| NC_000014.7:g.22963109G>A | NCBI36 |
| NG_007884.1:g.16602C>T , LRG_384:g.16602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2769C>T MANE Select | ENSP00000347507.3:p.Asn923= | |
| ENST00000355349.3:c.2769C>T | ENSP00000347507.3:p.Asn923= | |
| NM_000257.3:c.2769C>T | NP_000248.2:p.Asn923= | |
| XR_245686.3:n.2875C>T | ||
| XM_017021340.1:c.2769C>T | XP_016876829.1:p.Asn923= | |
| NM_000257.4:c.2769C>T MANE Select | NP_000248.2:p.Asn923= |