Linked Data
ClinVar Variation Id:
1090613
ClinVar RCV Id:
RCV001409799
dbSNP Id:
rs553850957
ExAC:
9:101304185 C / T
gnomAD v2:
9-101304185-C-T
gnomAD v3:
9-98541903-C-T
gnomAD v4:
9-98541903-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541903C>T , CM000671.2:g.98541903C>T | GRCh38 |
| NC_000009.11:g.101304185C>T , CM000671.1:g.101304185C>T | GRCh37 |
| NC_000009.10:g.100344006C>T | NCBI36 |
| NG_016426.1:g.172295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.600G>A MANE Select | ENSP00000259455.2:p.Thr200= | |
| ENST00000637410.1:n.378G>A | ||
| ENST00000637717.1:c.216G>A | ENSP00000490789.1:p.Thr72= | |
| ENST00000259455.3:c.600G>A | ENSP00000259455.2:p.Thr200= | |
| ENST00000477471.1:n.387G>A | ||
| ENST00000634227.1:n.374G>A | ||
| NM_005458.7:c.600G>A | NP_005449.5:p.Thr200= | |
| XM_017015331.2:c.306G>A | XP_016870820.1:p.Thr102= | |
| NM_005458.8:c.600G>A MANE Select | NP_005449.5:p.Thr200= |