Linked Data
dbSNP Id:
rs2504778
gnomAD v3:
1-27381490-G-A
gnomAD v4:
1-27381490-G-A
MyVariant Identifiers:
chr1:g.27381490G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27381490G>A , CM000663.2:g.27381490G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374030.3:c.373+290C>T MANE Select | ENSP00000363142.1:n.373+290C>T | |
| ENST00000374027.7:c.373+290C>T | ENSP00000363139.3:n.373+290C>T | |
| ENST00000374030.2:c.373+290C>T | ENSP00000363142.1:n.373+290C>T | |
| NM_207397.3:c.373+290C>T | NP_997280.2:n.373+290C>T | |
| XM_005245868.3:c.373+290C>T | XP_005245925.2:n.373+290C>T | |
| XM_011541441.1:c.373+290C>T | XP_011539743.1:n.373+290C>T | |
| XR_241190.3:n.449+290C>T | ||
| NM_001330448.1:c.373+290C>T MANE Select | NP_001317377.1:n.373+290C>T | |
| NM_207397.4:c.373+290C>T | NP_997280.2:n.373+290C>T | |
| NM_207397.5:c.373+290C>T | NP_997280.2:n.373+290C>T |