Linked Data
dbSNP Id:
rs200896834
gnomAD v2:
15-73614974-G-C
MyVariant Identifiers:
chr15:g.73614974G>C (hg19)
chr15:g.73614974_73614978delinsCAGGC (hg19)
chr15:g.73322633G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322633G>C , CM000677.2:g.73322633G>C | GRCh38 |
| NC_000015.9:g.73614974G>C , CM000677.1:g.73614974G>C | GRCh37 |
| NC_000015.8:g.71402027G>C | NCBI36 |
| NG_009063.1:g.51632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3460C>G MANE Select | ENSP00000261917.3:p.Arg1154Gly | |
| ENST00000261917.3:c.3460C>G | ENSP00000261917.3:p.Arg1154Gly | |
| NM_005477.2:c.3460C>G | NP_005468.1:p.Arg1154Gly | |
| XM_011521148.1:c.2242C>G | XP_011519450.1:p.Arg748Gly | |
| XM_011521148.2:c.2242C>G | XP_011519450.1:p.Arg748Gly | |
| NM_005477.3:c.3460C>G MANE Select | NP_005468.1:p.Arg1154Gly |