Linked Data
dbSNP Id:
rs2235306
gnomAD v2:
X-128784098-T-C
gnomAD v3:
X-129650121-T-C
gnomAD v4:
X-129650121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129650121T>C , CM000685.2:g.129650121T>C | GRCh38 |
| NC_000023.10:g.128784098T>C , CM000685.1:g.128784098T>C | GRCh37 |
| NC_000023.9:g.128611779T>C | NCBI36 |
| NG_016718.1:g.9836A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429967.3:c.68-1329A>G MANE Select | ENSP00000391800.2:n.68-1329A>G | |
| ENST00000429967.2:c.68-1329A>G | ENSP00000391800.2:n.68-1329A>G | |
| NM_017413.4:c.68-1329A>G | NP_059109.3:n.68-1329A>G | |
| NM_017413.5:c.68-1329A>G MANE Select | NP_059109.3:n.68-1329A>G |