Linked Data
ClinVar Variation Id:
2927512
ClinVar RCV Id:
RCV003784142
dbSNP Id:
rs753455700
ExAC:
X:66931410 T / C
gnomAD v2:
X-66931410-T-C
gnomAD v3:
X-67711568-T-C
gnomAD v4:
X-67711568-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711568T>C , CM000685.2:g.67711568T>C | GRCh38 |
| NC_000023.10:g.66931410T>C , CM000685.1:g.66931410T>C | GRCh37 |
| NC_000023.9:g.66848135T>C | NCBI36 |
| NG_009014.2:g.172537T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*400T>C | ENSP00000379358.4:n.*400T>C | |
| ENST00000374690.9:c.2052T>C MANE Select | ENSP00000363822.3:p.Gly684= | |
| ENST00000396043.3:c.679T>C | ENSP00000379358.3:n.679T>C | |
| ENST00000396044.8:c.2052T>C | ENSP00000379359.3:p.Gly684= | |
| ENST00000612452.5:c.2052T>C | ENSP00000484033.2:p.Gly684= | |
| ENST00000374690.7:c.2052T>C | ENSP00000363822.3:p.Gly684= | |
| ENST00000396043.2:c.456T>C | ENSP00000379358.2:p.Gly152= | |
| ENST00000396044.7:c.2052T>C | ENSP00000379359.3:p.Gly684= | |
| ENST00000612452.4:c.1482T>C | ENSP00000484033.1:p.Gly494= | |
| NM_000044.3:c.2052T>C | NP_000035.2:p.Gly684= | |
| NM_001011645.2:c.456T>C | NP_001011645.1:p.Gly152= | |
| NM_000044.4:c.2052T>C | NP_000035.2:p.Gly684= | |
| NM_001011645.3:c.456T>C | NP_001011645.1:p.Gly152= | |
| NM_000044.6:c.2052T>C MANE Select | NP_000035.2:p.Gly684= |