Linked Data
dbSNP Id:
rs377299388
ExAC:
3:93619624 G / C
gnomAD v2:
3-93619624-G-C
gnomAD v3:
3-93900780-G-C
gnomAD v4:
3-93900780-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900780G>C , CM000665.2:g.93900780G>C | GRCh38 |
| NC_000003.11:g.93619624G>C , CM000665.1:g.93619624G>C | GRCh37 |
| NC_000003.10:g.95102314G>C | NCBI36 |
| NG_009813.1:g.78311C>G , LRG_572:g.78311C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.727+24C>G | ENSP00000330021.7:n.727+24C>G | |
| ENST00000394236.9:c.727+24C>G MANE Select | ENSP00000377783.3:n.727+24C>G | |
| ENST00000407433.6:c.682+24C>G | ENSP00000385794.2:n.682+24C>G | |
| ENST00000647936.1:c.727+24C>G | ENSP00000496822.1:n.727+24C>G | |
| ENST00000648381.1:n.895+24C>G | ||
| ENST00000648853.1:c.685+24C>G | ENSP00000497262.1:n.685+24C>G | |
| ENST00000649103.1:c.826+24C>G | ENSP00000497962.1:n.826+24C>G | |
| ENST00000650591.1:c.823+24C>G | ENSP00000497376.1:n.823+24C>G | |
| ENST00000394236.7:c.727+24C>G | ENSP00000377783.3:n.727+24C>G | |
| ENST00000407433.5:c.334+24C>G | ENSP00000385794.1:n.334+24C>G | |
| NM_000313.3:c.727+24C>G , LRG_572t1:c.727+24C>G | NP_000304.2:n.727+24C>G | |
| NM_001314077.1:c.823+24C>G , LRG_572t2:c.823+24C>G | NP_001301006.1:n.823+24C>G | |
| NM_000313.4:c.727+24C>G MANE Select | NP_000304.2:n.727+24C>G | |
| NM_001314077.2:c.823+24C>G | NP_001301006.1:n.823+24C>G |