Linked Data
dbSNP Id:
rs2038060094
gnomAD v4:
19-41341927-T-C
MyVariant Identifiers:
chr19:g.41847832T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341927T>C , CM000681.2:g.41341927T>C | GRCh38 |
| NC_000019.9:g.41847832T>C , CM000681.1:g.41847832T>C | GRCh37 |
| NC_000019.8:g.46539672T>C | NCBI36 |
| NG_013364.1:g.17000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.816A>G MANE Select | ENSP00000221930.4:p.Gln272= | |
| ENST00000600196.2:c.712+243A>G | ENSP00000504008.1:n.712+243A>G | |
| ENST00000677934.1:c.634+2820A>G | ENSP00000504769.1:n.634+2820A>G | |
| ENST00000221930.5:c.816A>G | ENSP00000221930.4:p.Gln272= | |
| ENST00000598758.5:c.104A>G | ||
| ENST00000600196.1:n.172+243A>G | ||
| NM_000660.5:c.816A>G | NP_000651.3:p.Gln272= | |
| XM_011527242.1:c.819A>G | XP_011525544.1:p.Gln273= | |
| NM_000660.6:c.816A>G | NP_000651.3:p.Gln272= | |
| XM_011527242.2:c.819A>G | XP_011525544.1:p.Gln273= | |
| NM_000660.7:c.816A>G MANE Select | NP_000651.3:p.Gln272= |