Linked Data
dbSNP Id:
rs1321660637
gnomAD v3:
1-147907953-G-A
gnomAD v4:
1-147907953-G-A
MyVariant Identifiers:
chr1:g.147907953G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907953G>A , CM000663.2:g.147907953G>A | GRCh38 |
| NC_000001.10:g.147380080G>A , CM000663.1:g.147380080G>A | GRCh37 |
| NC_000001.9:g.145846704G>A | NCBI36 |
| NG_016242.1:g.10135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.-3G>A MANE Select | ENSP00000358238.1:n.-3G>A | |
| NM_005267.4:c.-3G>A | NP_005258.2:n.-3G>A | |
| XM_011509416.1:c.-3G>A | XP_011507718.1:n.-3G>A | |
| XM_011509417.1:c.-3G>A | XP_011507719.1:n.-3G>A | |
| XM_011509417.2:c.-3G>A | XP_011507719.1:n.-3G>A | |
| XR_002956281.1:n.913G>A | ||
| NM_005267.5:c.-3G>A MANE Select | NP_005258.2:n.-3G>A |