Linked Data
ClinVar Variation Id:
1956451
ClinVar RCV Id:
RCV002700855
dbSNP Id:
rs1461847619
gnomAD v2:
9-95481224-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718942C>G , CM000671.2:g.92718942C>G | GRCh38 |
| NC_000009.11:g.95481224C>G , CM000671.1:g.95481224C>G | GRCh37 |
| NC_000009.10:g.94521045C>G | NCBI36 |
| NG_033908.1:g.50860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1703G>C MANE Select | ENSP00000349351.6:p.Ser568Thr | |
| ENST00000356884.10:c.1703G>C | ENSP00000349351.6:p.Ser568Thr | |
| ENST00000375512.3:c.1703G>C | ENSP00000364662.3:p.Ser568Thr | |
| NM_001003800.1:c.1703G>C | NP_001003800.1:p.Ser568Thr | |
| NM_015250.3:c.1703G>C | NP_056065.1:p.Ser568Thr | |
| XM_017014551.1:c.1784G>C | XP_016870040.1:p.Ser595Thr | |
| NM_001003800.2:c.1703G>C MANE Select | NP_001003800.1:p.Ser568Thr | |
| NM_015250.4:c.1703G>C | NP_056065.1:p.Ser568Thr |