Linked Data
ClinVar Variation Id:
10488
ClinVar RCV Id:
RCV000011234
dbSNP Id:
rs199422228
PubMed:
PMID:1639384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482894C>G , CM000685.2:g.149482894C>G | GRCh38 |
| NC_000023.10:g.148564425C>G , CM000685.1:g.148564425C>G | GRCh37 |
| NC_000023.9:g.148372330C>G | NCBI36 |
| NG_011900.3:g.27441G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1505G>C MANE Select | ENSP00000339801.6:p.Trp502Ser | |
| ENST00000651111.1:c.872G>C | ENSP00000498395.1:p.Trp291Ser | |
| ENST00000340855.10:c.1505G>C | ENSP00000339801.6:p.Trp502Ser | |
| ENST00000422081.6:c.872G>C | ENSP00000477056.1:p.Trp291Ser | |
| NM_000202.6:c.1505G>C | NP_000193.1:p.Trp502Ser | |
| NM_001166550.2:c.1235G>C | NP_001160022.1:p.Trp412Ser | |
| NM_000202.7:c.1505G>C | NP_000193.1:p.Trp502Ser | |
| NM_001166550.3:c.1235G>C | NP_001160022.1:p.Trp412Ser | |
| NM_000202.8:c.1505G>C MANE Select | NP_000193.1:p.Trp502Ser | |
| NM_001166550.4:c.1235G>C | NP_001160022.1:p.Trp412Ser |