Linked Data
ClinVar Variation Id:
2923528
ClinVar RCV Id:
RCV003783086
dbSNP Id:
rs782484186
ExAC:
X:48547389 C / T
gnomAD v2:
X-48547389-C-T
gnomAD v3:
X-48689000-C-T
gnomAD v4:
X-48689000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48689000C>T , CM000685.2:g.48689000C>T | GRCh38 |
| NC_000023.10:g.48547389C>T , CM000685.1:g.48547389C>T | GRCh37 |
| NC_000023.9:g.48432333C>T | NCBI36 |
| NG_007877.1:g.10204C>T , LRG_125:g.10204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.516C>T | ||
| ENST00000698625.1:c.1272C>T | ENSP00000513844.1:p.Gly424= | |
| ENST00000698626.1:c.1272C>T | ENSP00000513845.1:p.Gly424= | |
| ENST00000698635.1:c.1272C>T | ENSP00000513850.1:p.Gly424= | |
| ENST00000376701.5:c.1272C>T MANE Select | ENSP00000365891.4:p.Gly424= | |
| ENST00000376701.4:c.1272C>T | ENSP00000365891.4:p.Gly424= | |
| NM_000377.2:c.1272C>T , LRG_125t1:c.1272C>T | NP_000368.1:p.Gly424= | |
| XM_011543977.1:c.1116C>T | XP_011542279.1:p.Gly372= | |
| XM_011543977.2:c.1116C>T | XP_011542279.1:p.Gly372= | |
| XM_017029786.1:c.1272C>T | XP_016885275.1:p.Gly424= | |
| NM_000377.3:c.1272C>T MANE Select | NP_000368.1:p.Gly424= |