Linked Data
ClinVar Variation Id:
1294153
ClinVar RCV Id:
RCV001716051
dbSNP Id:
rs76018296
gnomAD v2:
5-127640595-C-G
gnomAD v3:
5-128304903-C-G
gnomAD v4:
5-128304903-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304903C>G , CM000667.2:g.128304903C>G | GRCh38 |
| NC_000005.9:g.127640595C>G , CM000667.1:g.127640595C>G | GRCh37 |
| NC_000005.8:g.127668494C>G | NCBI36 |
| NG_008750.1:g.238141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2584+54G>C | ||
| ENST00000703785.1:n.2503+54G>C | ||
| ENST00000262464.9:c.5800+54G>C MANE Select | ENSP00000262464.4:n.5800+54G>C | |
| ENST00000262464.8:c.5800+54G>C | ENSP00000262464.4:n.5800+54G>C | |
| ENST00000508053.5:c.5800+54G>C | ENSP00000424571.1:n.5800+54G>C | |
| ENST00000619499.4:c.5797+54G>C | ENSP00000482132.1:n.5797+54G>C | |
| NM_001999.3:c.5800+54G>C | NP_001990.2:n.5800+54G>C | |
| XM_017009228.2:c.5647+54G>C | XP_016864717.1:n.5647+54G>C | |
| NM_001999.4:c.5800+54G>C MANE Select | NP_001990.2:n.5800+54G>C |