Linked Data
ClinVar Variation Id:
283707
dbSNP Id:
rs200502077
ExAC:
13:23778029 G / C
gnomAD v2:
13-23778029-G-C
gnomAD v3:
13-23203890-G-C
gnomAD v4:
13-23203890-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23203890G>C , CM000675.2:g.23203890G>C | GRCh38 |
| NC_000013.10:g.23778029G>C , CM000675.1:g.23778029G>C | GRCh37 |
| NC_000013.9:g.22676029G>C | NCBI36 |
| NG_008759.1:g.27970G>C , LRG_207:g.27970G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218867.4:c.195+1G>C MANE Select | ENSP00000218867.3:n.195+1G>C | |
| ENST00000218867.3:c.195+1G>C | ENSP00000218867.3:n.195+1G>C | |
| NM_000231.2:c.195+1G>C , LRG_207t1:c.195+1G>C | NP_000222.1:n.195+1G>C | |
| XM_005266505.2:c.195+1G>C | XP_005266562.1:n.195+1G>C | |
| XM_006719861.2:c.249+1G>C | XP_006719924.1:n.249+1G>C | |
| XM_006719861.3:c.249+1G>C | XP_006719924.1:n.249+1G>C | |
| XM_024449397.1:c.195+1G>C | XP_024305165.1:n.195+1G>C | |
| NM_000231.3:c.195+1G>C MANE Select | NP_000222.2:n.195+1G>C | |
| NM_001378244.1:c.249+1G>C | NP_001365173.1:n.249+1G>C | |
| NM_001378245.1:c.195+1G>C | NP_001365174.1:n.195+1G>C | |
| NM_001378246.1:c.195+1G>C | NP_001365175.1:n.195+1G>C |