Linked Data
ClinVar Variation Id:
359317
ClinVar RCV Id:
RCV000358645
RCV000712084
RCV001700351
RCV001841275
RCV001095172
RCV002411254
RCV004549818
dbSNP Id:
rs72549419
ExAC:
7:150672034 G / C
gnomAD v2:
7-150672034-G-C
gnomAD v3:
7-150974946-G-C
gnomAD v4:
7-150974946-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974946G>C , CM000669.2:g.150974946G>C | GRCh38 |
| NC_000007.13:g.150672034G>C , CM000669.1:g.150672034G>C | GRCh37 |
| NC_000007.12:g.150302967G>C | NCBI36 |
| NG_008916.1:g.7981C>G , LRG_288:g.7981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.77-5C>G MANE Select | ENSP00000262186.5:n.77-5C>G | |
| ENST00000262186.9:c.77-5C>G | ENSP00000262186.5:n.77-5C>G | |
| ENST00000430723.4:c.-101-5C>G | ENSP00000387657.4:n.-101-5C>G | |
| ENST00000532957.5:n.300-5C>G | ||
| NM_000238.3:c.77-5C>G , LRG_288t1:c.77-5C>G | NP_000229.1:n.77-5C>G | |
| NM_172056.2:c.77-5C>G , LRG_288t2:c.77-5C>G | NP_742053.1:n.77-5C>G | |
| XM_011516186.1:c.77-5C>G | XP_011514488.1:n.77-5C>G | |
| XM_011516186.3:c.77-5C>G | XP_011514488.1:n.77-5C>G | |
| XM_017012196.1:c.-101-5C>G | XP_016867685.1:n.-101-5C>G | |
| NM_000238.4:c.77-5C>G MANE Select | NP_000229.1:n.77-5C>G |