Linked Data
ClinVar Variation Id:
9795
ClinVar RCV Id:
RCV000010464
dbSNP Id:
rs121909496
ExAC:
X:105278371 C / T
gnomAD v4:
X-106034380-C-T
PubMed:
PMID:9510125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106034380C>T , CM000685.2:g.106034380C>T | GRCh38 |
| NC_000023.10:g.105278371C>T , CM000685.1:g.105278371C>T | GRCh37 |
| NC_000023.9:g.105165027C>T | NCBI36 |
| NG_021252.1:g.9348G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372563.2:c.899G>A MANE Select | ENSP00000361644.1:p.Trp300Ter | |
| ENST00000327674.8:c.899G>A | ENSP00000329374.4:p.Trp300Ter | |
| ENST00000372563.1:c.899G>A | ENSP00000361644.1:p.Trp300Ter | |
| ENST00000487487.1:n.172G>A | ||
| NM_000354.5:c.899G>A | NP_000345.2:p.Trp300Ter | |
| XM_005262180.3:c.899G>A | XP_005262237.1:p.Trp300Ter | |
| XM_006724683.1:c.899G>A | XP_006724746.1:p.Trp300Ter | |
| XM_005262180.4:c.899G>A | XP_005262237.1:p.Trp300Ter | |
| XM_006724683.2:c.899G>A | XP_006724746.1:p.Trp300Ter | |
| NM_000354.6:c.899G>A MANE Select | NP_000345.2:p.Trp300Ter |