Linked Data
ClinVar Variation Id:
1078361
ClinVar RCV Id:
RCV001393290
dbSNP Id:
rs139989739
ExAC:
1:215953192 C / T
gnomAD v2:
1-215953192-C-T
gnomAD v3:
1-215779850-C-T
gnomAD v4:
1-215779850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779850C>T , CM000663.2:g.215779850C>T | GRCh38 |
| NC_000001.10:g.215953192C>T , CM000663.1:g.215953192C>T | GRCh37 |
| NC_000001.9:g.214019815C>T | NCBI36 |
| NG_009497.1:g.648547G>A | |
| NG_009497.2:g.648599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10932G>A MANE Select | ENSP00000305941.3:p.Thr3644= | |
| ENST00000674083.1:c.10932G>A | ENSP00000501296.1:p.Thr3644= | |
| ENST00000307340.7:c.10932G>A | ENSP00000305941.3:p.Thr3644= | |
| NM_206933.2:c.10932G>A | NP_996816.2:p.Thr3644= | |
| NM_206933.3:c.10932G>A | NP_996816.2:p.Thr3644= | |
| NM_206933.4:c.10932G>A MANE Select | NP_996816.3:p.Thr3644= |