Linked Data
dbSNP Id:
rs7230480
gnomAD v2:
18-12274697-T-C
gnomAD v3:
18-12274698-T-C
gnomAD v4:
18-12274698-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12274698T>C , CM000680.2:g.12274698T>C | GRCh38 |
| NC_000018.9:g.12274697T>C , CM000680.1:g.12274697T>C | GRCh37 |
| NC_000018.8:g.12264697T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320477.10:c.512+424T>C MANE Select | ENSP00000320209.8:n.512+424T>C | |
| ENST00000320477.9:c.512+424T>C | ENSP00000320209.8:n.512+424T>C | |
| ENST00000520620.1:n.525-2425T>C | ||
| ENST00000521296.5:n.729+424T>C | ||
| ENST00000522713.5:c.*711+424T>C | ENSP00000429238.1:n.*711+424T>C | |
| NM_001279.3:c.512+424T>C | NP_001270.1:n.512+424T>C | |
| NR_036468.1:n.1070+424T>C | ||
| XM_011525602.1:c.215+424T>C | XP_011523904.1:n.215+424T>C | |
| NM_001318383.1:c.614+424T>C | NP_001305312.1:n.614+424T>C | |
| NR_134607.1:n.1337+424T>C | ||
| NM_001279.4:c.512+424T>C MANE Select | NP_001270.1:n.512+424T>C | |
| NM_001318383.2:c.614+424T>C | NP_001305312.1:n.614+424T>C | |
| NR_134607.2:n.1337+424T>C |