Linked Data
ClinVar Variation Id:
1190348
ClinVar RCV Id:
RCV001551029
dbSNP Id:
rs397516671
gnomAD v4:
X-70027937-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70027937C>A , CM000685.2:g.70027937C>A | GRCh38 |
| NC_000023.10:g.69247787C>A , CM000685.1:g.69247787C>A | GRCh37 |
| NC_000023.9:g.69164512C>A | NCBI36 |
| NG_009809.1:g.416877C>A | |
| NG_009809.2:g.416871C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.607C>A MANE Select | ENSP00000363680.4:p.Pro203Thr | |
| ENST00000374552.8:c.607C>A | ENSP00000363680.4:p.Pro203Thr | |
| ENST00000374553.6:c.607C>A | ENSP00000363681.2:p.Pro203Thr | |
| ENST00000503592.5:c.211C>A | ENSP00000423037.1:p.Pro71Thr | |
| ENST00000524573.5:c.607C>A | ENSP00000432585.1:p.Pro203Thr | |
| ENST00000616899.1:c.211C>A | ENSP00000481963.1:p.Pro71Thr | |
| NM_001005609.1:c.607C>A | NP_001005609.1:p.Pro203Thr | |
| NM_001005612.2:c.607C>A | NP_001005612.2:p.Pro203Thr | |
| NM_001399.4:c.607C>A | NP_001390.1:p.Pro203Thr | |
| XM_006724630.2:c.607C>A | XP_006724693.1:p.Pro203Thr | |
| XM_011530885.1:c.607C>A | XP_011529187.1:p.Pro203Thr | |
| XM_011530885.2:c.607C>A | XP_011529187.1:p.Pro203Thr | |
| XM_017029336.1:c.607C>A | XP_016884825.1:p.Pro203Thr | |
| NM_001399.5:c.607C>A MANE Select | NP_001390.1:p.Pro203Thr | |
| NM_001005609.2:c.607C>A | NP_001005609.1:p.Pro203Thr | |
| NM_001005612.3:c.607C>A | NP_001005612.2:p.Pro203Thr |