Linked Data
dbSNP Id:
rs4253079
gnomAD v2:
10-50722825-T-G
gnomAD v3:
10-49514779-T-G
gnomAD v4:
10-49514779-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49514779T>G , CM000672.2:g.49514779T>G | GRCh38 |
| NC_000010.10:g.50722825T>G , CM000672.1:g.50722825T>G | GRCh37 |
| NC_000010.9:g.50392831T>G | NCBI36 |
| NG_009442.1:g.29323A>C , LRG_465:g.29323A>C | |
| NG_033155.1:g.14503A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1398-8767A>C MANE Select | ENSP00000348089.5:n.1398-8767A>C | |
| ENST00000679811.1:n.1481-8767A>C | ||
| ENST00000680107.1:c.*2320A>C | ENSP00000505909.1:n.*2320A>C | |
| ENST00000681632.1:n.1476-8767A>C | ||
| ENST00000681659.1:c.1398-8767A>C | ENSP00000505631.1:n.1398-8767A>C | |
| ENST00000355832.9:c.1398-8767A>C | ENSP00000348089.5:n.1398-8767A>C | |
| NM_000124.3:c.1398-8767A>C | NP_000115.1:n.1398-8767A>C | |
| NM_001346440.1:c.1398-8767A>C | NP_001333369.1:n.1398-8767A>C | |
| NM_000124.4:c.1398-8767A>C MANE Select | NP_000115.1:n.1398-8767A>C | |
| NM_001346440.2:c.1398-8767A>C | NP_001333369.1:n.1398-8767A>C |