Linked Data
dbSNP Id:
rs1862631540
gnomAD v4:
11-121558813-C-T
MyVariant Identifiers:
chr11:g.121429522C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121558813C>T , CM000673.2:g.121558813C>T | GRCh38 |
| NC_000011.9:g.121429522C>T , CM000673.1:g.121429522C>T | GRCh37 |
| NC_000011.8:g.120934732C>T | NCBI36 |
| NG_023313.1:g.111562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2886C>T MANE Select | ENSP00000260197.6:p.His962= | |
| ENST00000260197.11:c.2886C>T | ENSP00000260197.6:p.His962= | |
| ENST00000529445.1:n.592C>T | ||
| NM_003105.5:c.2886C>T | NP_003096.1:p.His962= | |
| XM_011542963.1:c.2886C>T | XP_011541265.1:p.His962= | |
| XM_011542964.1:c.2886C>T | XP_011541266.1:p.His962= | |
| XM_011542965.1:c.1347C>T | XP_011541267.1:p.His449= | |
| XM_011542966.1:c.246C>T | XP_011541268.1:p.His82= | |
| XM_011542963.3:c.2886C>T | XP_011541265.1:p.His962= | |
| XM_011542965.3:c.1347C>T | XP_011541267.1:p.His449= | |
| XM_017018169.2:c.2574C>T | XP_016873658.1:p.His858= | |
| XM_017018170.2:c.2361C>T | XP_016873659.1:p.His787= | |
| XM_017018171.1:c.2886C>T | XP_016873660.1:p.His962= | |
| XM_017018172.2:c.246C>T | XP_016873661.1:p.His82= | |
| NM_003105.6:c.2886C>T MANE Select | NP_003096.2:p.His962= |