Linked Data
ClinVar Variation Id:
424379
ClinVar RCV Id:
RCV000478083
dbSNP Id:
rs1064796945
gnomAD v4:
X-23334877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23334877T>C , CM000685.2:g.23334877T>C | GRCh38 |
| NC_000023.10:g.23352994T>C , CM000685.1:g.23352994T>C | GRCh37 |
| NC_000023.9:g.23262915T>C | NCBI36 |
| NG_021300.1:g.5010T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379361.5:c.2T>C MANE Select | ENSP00000368666.4:p.Met1Thr | |
| ENST00000379361.4:c.2T>C | ENSP00000368666.4:p.Met1Thr | |
| ENST00000616022.1:c.-123-191T>C | ENSP00000478663.1:n.-123-191T>C | |
| NM_173495.2:c.2T>C | NP_775766.2:p.Met1Thr | |
| XM_011545449.1:c.2T>C | XP_011543751.1:p.Met1Thr | |
| XM_011545449.3:c.2T>C | XP_011543751.1:p.Met1Thr | |
| NM_173495.3:c.2T>C MANE Select | NP_775766.2:p.Met1Thr |