Linked Data
ClinVar Variation Id:
1343764
ClinVar RCV Id:
RCV001844781
dbSNP Id:
rs539580993
ExAC:
1:215953317 C / T
gnomAD v2:
1-215953317-C-T
gnomAD v3:
1-215779975-C-T
gnomAD v4:
1-215779975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779975C>T , CM000663.2:g.215779975C>T | GRCh38 |
| NC_000001.10:g.215953317C>T , CM000663.1:g.215953317C>T | GRCh37 |
| NC_000001.9:g.214019940C>T | NCBI36 |
| NG_009497.1:g.648422G>A | |
| NG_009497.2:g.648474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10807G>A MANE Select | ENSP00000305941.3:p.Ala3603Thr | |
| ENST00000674083.1:c.10807G>A | ENSP00000501296.1:p.Ala3603Thr | |
| ENST00000307340.7:c.10807G>A | ENSP00000305941.3:p.Ala3603Thr | |
| NM_206933.2:c.10807G>A | NP_996816.2:p.Ala3603Thr | |
| NM_206933.3:c.10807G>A | NP_996816.2:p.Ala3603Thr | |
| NM_206933.4:c.10807G>A MANE Select | NP_996816.3:p.Ala3603Thr |