Linked Data
dbSNP Id:
rs1555273088
gnomAD v4:
12-101796736-T-C
MyVariant Identifiers:
chr12:g.102190514T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101796736T>C , CM000674.2:g.101796736T>C | GRCh38 |
| NC_000012.11:g.102190514T>C , CM000674.1:g.102190514T>C | GRCh37 |
| NC_000012.10:g.100714645T>C | NCBI36 |
| NG_021243.1:g.39132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.144A>G MANE Select | ENSP00000299314.7:p.Gln48= | |
| ENST00000647144.1:n.264A>G | ||
| ENST00000299314.11:c.144A>G | ENSP00000299314.7:p.Gln48= | |
| ENST00000392919.4:c.144A>G | ENSP00000376651.4:p.Gln48= | |
| ENST00000549165.1:c.144A>G | ENSP00000450413.1:p.Gln48= | |
| ENST00000549940.5:c.144A>G | ENSP00000449150.1:p.Gln48= | |
| NM_024312.4:c.144A>G | NP_077288.2:p.Gln48= | |
| XM_006719593.2:c.144A>G | XP_006719656.1:p.Gln48= | |
| XM_011538731.1:c.63A>G | XP_011537033.1:p.Gln21= | |
| XM_006719593.3:c.144A>G | XP_006719656.1:p.Gln48= | |
| XM_011538731.2:c.63A>G | XP_011537033.1:p.Gln21= | |
| XM_017019961.1:c.-73A>G | XP_016875450.1:n.-73A>G | |
| XM_017019962.2:c.-1207A>G | XP_016875451.1:n.-1207A>G | |
| NM_024312.5:c.144A>G MANE Select | NP_077288.2:p.Gln48= |