Linked Data
dbSNP Id:
rs1943386265
gnomAD v4:
12-8839198-T-C
MyVariant Identifiers:
chr12:g.8991794T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8839198T>C , CM000674.2:g.8839198T>C | GRCh38 |
| NC_000012.11:g.8991794T>C , CM000674.1:g.8991794T>C | GRCh37 |
| NC_000012.10:g.8883061T>C | NCBI36 |
| NG_042857.1:g.21727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299698.12:c.1056T>C MANE Select | ENSP00000299698.7:p.His352= | |
| ENST00000299698.11:c.1056T>C | ENSP00000299698.7:p.His352= | |
| NM_144670.4:c.1056T>C | NP_653271.2:p.His352= | |
| NM_144670.5:c.1056T>C | NP_653271.2:p.His352= | |
| XM_011520566.1:c.1056T>C | XP_011518868.1:p.His352= | |
| XM_011520567.1:c.1056T>C | XP_011518869.1:p.His352= | |
| XR_931275.1:n.1154T>C | ||
| XM_011520566.2:c.1056T>C | XP_011518868.1:p.His352= | |
| XM_011520567.2:c.1056T>C | XP_011518869.1:p.His352= | |
| XM_017018868.1:c.1056T>C | XP_016874357.1:p.His352= | |
| XM_017018869.1:c.1056T>C | XP_016874358.1:p.His352= | |
| XM_017018870.1:c.1056T>C | XP_016874359.1:p.His352= | |
| XR_001748594.1:n.1154T>C | ||
| NM_144670.6:c.1056T>C MANE Select | NP_653271.3:p.His352= |