Linked Data
ClinVar Variation Id:
9950
ClinVar RCV Id:
RCV000010628
dbSNP Id:
rs137852534
gnomAD v2:
X-77378693-T-C
gnomAD v4:
X-78123196-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123196T>C , CM000685.2:g.78123196T>C | GRCh38 |
| NC_000023.10:g.77378693T>C , CM000685.1:g.77378693T>C | GRCh37 |
| NC_000023.9:g.77265349T>C | NCBI36 |
| NG_008862.1:g.24028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.758T>C MANE Select | ENSP00000362413.4:p.Ile253Thr | |
| ENST00000644362.1:c.674T>C | ENSP00000496140.1:p.Ile225Thr | |
| ENST00000373316.4:c.758T>C | ENSP00000362413.4:p.Ile253Thr | |
| ENST00000474281.1:n.165T>C | ||
| NM_000291.3:c.758T>C | NP_000282.1:p.Ile253Thr | |
| NM_000291.4:c.758T>C MANE Select | NP_000282.1:p.Ile253Thr |