Linked Data
dbSNP Id:
rs778951863
ExAC:
19:36333026 C / G
gnomAD v2:
19-36333026-C-G
gnomAD v4:
19-35842124-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842124C>G , CM000681.2:g.35842124C>G | GRCh38 |
| NC_000019.9:g.36333026C>G , CM000681.1:g.36333026C>G | GRCh37 |
| NC_000019.8:g.41024866C>G | NCBI36 |
| NG_013356.2:g.32164G>C , LRG_693:g.32164G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2663G>C MANE Select | ENSP00000368190.4:p.Arg888Thr | |
| ENST00000353632.6:c.2663G>C | ENSP00000343634.5:p.Arg888Thr | |
| ENST00000378910.9:c.2663G>C | ENSP00000368190.4:p.Arg888Thr | |
| NM_004646.3:c.2663G>C , LRG_693t1:c.2663G>C | NP_004637.1:p.Arg888Thr | |
| NM_004646.4:c.2663G>C MANE Select | NP_004637.1:p.Arg888Thr |