Linked Data
ClinVar Variation Id:
261563
ClinVar RCV Id:
RCV000245122
RCV000545421
RCV000584843
RCV001778865
RCV003114429
RCV003224242
RCV004555860
dbSNP Id:
rs35337543
ExAC:
2:163136505 C / G
gnomAD v2:
2-163136505-C-G
gnomAD v3:
2-162279995-C-G
gnomAD v4:
2-162279995-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162279995C>G , CM000664.2:g.162279995C>G | GRCh38 |
| NC_000002.11:g.163136505C>G , CM000664.1:g.163136505C>G | GRCh37 |
| NC_000002.10:g.162844751C>G | NCBI36 |
| NG_011495.1:g.43535G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1238+1G>C | ENSP00000513228.1:n.*1238+1G>C | |
| ENST00000648433.1:c.1524+1333G>C | ENSP00000496816.1:n.1524+1333G>C | |
| ENST00000649554.1:n.1251+1G>C | ||
| ENST00000649979.2:c.1641+1G>C MANE Select | ENSP00000497271.1:n.1641+1G>C | |
| ENST00000679938.1:c.1329+1G>C | ENSP00000505518.1:n.1329+1G>C | |
| ENST00000263642.2:c.1641+1G>C | ENSP00000263642.2:n.1641+1G>C | |
| NM_022168.3:c.1641+1G>C | NP_071451.2:n.1641+1G>C | |
| XM_011511628.1:c.924+1G>C | XP_011509930.1:n.924+1G>C | |
| XM_011511629.1:c.1641+1G>C | XP_011509931.1:n.1641+1G>C | |
| NM_022168.4:c.1641+1G>C MANE Select | NP_071451.2:n.1641+1G>C |