Linked Data
ClinVar Variation Id:
2173816
ClinVar RCV Id:
RCV002584756
dbSNP Id:
rs778363445
ExAC:
X:22196439 A / C
gnomAD v2:
X-22196439-A-C
gnomAD v3:
X-22178322-A-C
gnomAD v4:
X-22178322-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22178322A>C , CM000685.2:g.22178322A>C | GRCh38 |
| NC_000023.10:g.22196439A>C , CM000685.1:g.22196439A>C | GRCh37 |
| NC_000023.9:g.22106360A>C | NCBI36 |
| NG_007563.2:g.150519A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.86A>C | ENSP00000508003.1:p.Lys29Thr | |
| ENST00000683162.1:c.86A>C | ENSP00000508059.1:p.Lys29Thr | |
| ENST00000683289.1:c.86A>C | ENSP00000508195.1:p.Lys29Thr | |
| ENST00000683917.1:n.316A>C | ||
| ENST00000684356.1:c.86A>C | ENSP00000507619.1:p.Lys29Thr | |
| ENST00000684745.1:n.1206A>C | ||
| ENST00000379374.5:c.1532A>C MANE Select | ENSP00000368682.4:p.Lys511Thr | |
| ENST00000379374.4:c.1532A>C | ENSP00000368682.4:p.Lys511Thr | |
| NM_000444.5:c.1532A>C | NP_000435.3:p.Lys511Thr | |
| NM_001282754.1:c.1532A>C | NP_001269683.1:p.Lys511Thr | |
| XM_011545533.1:c.776A>C | XP_011543835.1:p.Lys259Thr | |
| XM_011545534.1:c.776A>C | XP_011543836.1:p.Lys259Thr | |
| XM_011545536.1:c.425A>C | XP_011543838.1:p.Lys142Thr | |
| XM_011545536.2:c.425A>C | XP_011543838.1:p.Lys142Thr | |
| XM_017029579.1:c.776A>C | XP_016885068.1:p.Lys259Thr | |
| XM_024452390.1:c.1241A>C | XP_024308158.1:p.Lys414Thr | |
| XR_001755695.1:n.2372A>C | ||
| NM_000444.6:c.1532A>C MANE Select | NP_000435.3:p.Lys511Thr | |
| NM_001282754.2:c.1532A>C | NP_001269683.1:p.Lys511Thr |