Linked Data
dbSNP Id:
rs1960106801
gnomAD v3:
17-39872357-G-C
gnomAD v4:
17-39872357-G-C
COSMIC:
COSM4846667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872357G>C , CM000679.2:g.39872357G>C | GRCh38 |
| NC_000017.10:g.38028610G>C , CM000679.1:g.38028610G>C | GRCh37 |
| NC_000017.9:g.35282136G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.494G>C MANE Select | ENSP00000335384.5:p.Arg165Thr | |
| ENST00000348931.8:c.494G>C | ENSP00000335384.5:p.Arg165Thr | |
| ENST00000377940.3:c.428G>C | ENSP00000367174.3:p.Arg143Thr | |
| ENST00000583811.5:c.140G>C | ENSP00000462463.1:p.Arg47Thr | |
| ENST00000584588.5:c.407-687G>C | ENSP00000462067.1:n.407-687G>C | |
| NM_198844.2:c.428G>C | NP_942141.2:p.Arg143Thr | |
| NM_199321.2:c.494G>C | NP_955353.1:p.Arg165Thr | |
| XM_011524298.1:c.494G>C | XP_011522600.1:p.Arg165Thr | |
| XR_002957959.1:n.685G>C | ||
| NM_198844.3:c.428G>C | NP_942141.2:p.Arg143Thr | |
| NM_199321.3:c.494G>C MANE Select | NP_955353.1:p.Arg165Thr |