Linked Data
dbSNP Id:
rs1199475313
gnomAD v2:
8-37823795-T-C
gnomAD v3:
8-37966277-T-C
gnomAD v4:
8-37966277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966277T>C , CM000670.2:g.37966277T>C | GRCh38 |
| NC_000008.10:g.37823795T>C , CM000670.1:g.37823795T>C | GRCh37 |
| NC_000008.9:g.37942952T>C | NCBI36 |
| NG_011936.1:g.5390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.193A>G MANE Select | ENSP00000343782.3:p.Thr65Ala | |
| ENST00000520341.2:n.321A>G | ||
| ENST00000345060.4:c.193A>G | ENSP00000343782.3:p.Thr65Ala | |
| ENST00000614635.1:c.193A>G | ENSP00000480325.1:p.Thr65Ala | |
| NM_000025.2:c.193A>G | NP_000016.1:p.Thr65Ala | |
| NM_000025.3:c.193A>G MANE Select | NP_000016.1:p.Thr65Ala |