Linked Data
ClinVar Variation Id:
522588
ClinVar RCV Id:
RCV000625726
dbSNP Id:
rs1401228799
gnomAD v2:
6-31750317-G-T
gnomAD v4:
6-31782540-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31782540G>T , CM000668.2:g.31782540G>T | GRCh38 |
| NC_000006.11:g.31750317G>T , CM000668.1:g.31750317G>T | GRCh37 |
| NC_000006.10:g.31858296G>T | NCBI36 |
| NG_028229.1:g.18396C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375663.8:c.1981C>A MANE Select | ENSP00000364815.3:p.Pro661Thr | |
| ENST00000375663.7:c.1981C>A | ENSP00000364815.3:p.Pro661Thr | |
| ENST00000428445.1:c.50C>A | ||
| ENST00000461328.1:n.534C>A | ||
| ENST00000474643.5:n.450C>A | ||
| NM_006295.2:c.1981C>A | NP_006286.1:p.Pro661Thr | |
| XM_005249362.2:c.1984C>A | XP_005249419.1:p.Pro662Thr | |
| XM_011514845.1:c.235C>A | XP_011513147.1:p.Pro79Thr | |
| XR_926304.1:n.2400C>A | ||
| XM_017011246.1:c.235C>A | XP_016866735.1:p.Pro79Thr | |
| XM_024446537.1:c.235C>A | XP_024302305.1:p.Pro79Thr | |
| XR_926304.2:n.2400C>A | ||
| NM_006295.3:c.1981C>A MANE Select | NP_006286.1:p.Pro661Thr |