Linked Data
ClinVar Variation Id:
1961440
ClinVar RCV Id:
RCV002720693
dbSNP Id:
rs781183733
ExAC:
1:215844538 G / A
gnomAD v2:
1-215844538-G-A
gnomAD v4:
1-215671196-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671196G>A , CM000663.2:g.215671196G>A | GRCh38 |
| NC_000001.10:g.215844538G>A , CM000663.1:g.215844538G>A | GRCh37 |
| NC_000001.9:g.213911161G>A | NCBI36 |
| NG_009497.1:g.757201C>T | |
| NG_009497.2:g.757253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13909C>T MANE Select | ENSP00000305941.3:p.Pro4637Ser | |
| ENST00000674083.1:c.13909C>T | ENSP00000501296.1:p.Pro4637Ser | |
| ENST00000307340.7:c.13909C>T | ENSP00000305941.3:p.Pro4637Ser | |
| NM_206933.2:c.13909C>T | NP_996816.2:p.Pro4637Ser | |
| NM_206933.3:c.13909C>T | NP_996816.2:p.Pro4637Ser | |
| NM_206933.4:c.13909C>T MANE Select | NP_996816.3:p.Pro4637Ser |