Linked Data
ClinVar Variation Id:
2797548
ClinVar RCV Id:
RCV003673272
dbSNP Id:
rs368019046
ExAC:
2:48066548 C / G
gnomAD v2:
2-48066548-C-G
gnomAD v3:
2-47839409-C-G
gnomAD v4:
2-47839409-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47839409C>G , CM000664.2:g.47839409C>G | GRCh38 |
| NC_000002.11:g.48066548C>G , CM000664.1:g.48066548C>G | GRCh37 |
| NC_000002.10:g.47920052C>G | NCBI36 |
| NG_008397.1:g.71267G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681999.1:n.319+10G>C | ||
| ENST00000682451.1:n.291+10G>C | ||
| ENST00000682975.1:n.337+10G>C | ||
| ENST00000683894.1:c.190+10G>C | ENSP00000507789.1:n.190+10G>C | |
| ENST00000684085.1:n.319+10G>C | ||
| ENST00000684712.1:n.550+10G>C | ||
| ENST00000403359.8:c.442+10G>C MANE Select | ENSP00000384823.4:n.442+10G>C | |
| ENST00000316377.8:c.208+10G>C | ENSP00000323822.5:n.208+10G>C | |
| ENST00000402508.5:c.190+10G>C | ENSP00000385398.1:n.190+10G>C | |
| ENST00000403359.7:c.442+10G>C | ENSP00000384823.3:n.442+10G>C | |
| ENST00000424163.2:c.190+10G>C | ENSP00000392272.1:n.190+10G>C | |
| ENST00000480038.1:n.405+10G>C | ||
| ENST00000492225.5:n.290+10G>C | ||
| NM_001190274.1:c.442+10G>C | NP_001177203.1:n.442+10G>C | |
| NM_025133.4:c.190+10G>C | NP_079409.3:n.190+10G>C | |
| XM_005264572.3:c.442+10G>C | XP_005264629.1:n.442+10G>C | |
| XM_005264573.3:c.442+10G>C | XP_005264630.1:n.442+10G>C | |
| XM_005264572.5:c.442+10G>C | XP_005264629.1:n.442+10G>C | |
| XM_005264573.5:c.442+10G>C | XP_005264630.1:n.442+10G>C | |
| XM_017005015.1:c.442+10G>C | XP_016860504.1:n.442+10G>C | |
| XM_017005016.2:c.190+10G>C | XP_016860505.1:n.190+10G>C | |
| XM_017005017.1:c.190+10G>C | XP_016860506.1:n.190+10G>C | |
| NM_001190274.2:c.442+10G>C MANE Select | NP_001177203.1:n.442+10G>C | |
| NM_001374325.1:c.190+10G>C | NP_001361254.1:n.190+10G>C |