Linked Data
ClinVar Variation Id:
738528
ClinVar RCV Id:
RCV000914425
dbSNP Id:
rs556748974
ExAC:
11:128680613 C / T
gnomAD v2:
11-128680613-C-T
gnomAD v3:
11-128810718-C-T
gnomAD v4:
11-128810718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810718C>T , CM000673.2:g.128810718C>T | GRCh38 |
| NC_000011.9:g.128680613C>T , CM000673.1:g.128680613C>T | GRCh37 |
| NC_000011.8:g.128185823C>T | NCBI36 |
| NG_032912.1:g.129184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1110C>T | ENSP00000513017.1:p.His370= | |
| ENST00000527786.7:c.1089C>T MANE Select | ENSP00000433488.2:p.His363= | |
| ENST00000281428.12:c.891C>T | ENSP00000281428.8:p.His297= | |
| ENST00000344954.10:c.510C>T | ENSP00000339627.7:p.His170= | |
| ENST00000429175.7:c.*1011C>T | ENSP00000399985.3:n.*1011C>T | |
| ENST00000527786.6:c.1089C>T | ENSP00000433488.2:p.His363= | |
| ENST00000528790.1:n.3672C>T | ||
| ENST00000534087.3:c.990C>T | ENSP00000432950.1:p.His330= | |
| ENST00000608303.5:c.*481C>T | ENSP00000477262.1:n.*481C>T | |
| NM_001167681.2:c.990C>T | NP_001161153.1:p.His330= | |
| NM_001271010.1:c.891C>T | NP_001257939.1:p.His297= | |
| NM_001271012.1:c.510C>T | NP_001257941.1:p.His170= | |
| NM_002017.4:c.1089C>T | NP_002008.2:p.His363= | |
| XM_011542701.1:c.990C>T | XP_011541003.1:p.His330= | |
| XM_011542702.1:c.963C>T | XP_011541004.1:p.His321= | |
| XM_011542701.2:c.990C>T | XP_011541003.1:p.His330= | |
| XM_017017405.1:c.990C>T | XP_016872894.1:p.His330= | |
| XM_017017406.1:c.990C>T | XP_016872895.1:p.His330= | |
| NM_002017.5:c.1089C>T MANE Select | NP_002008.2:p.His363= | |
| NM_001167681.3:c.990C>T | NP_001161153.1:p.His330= | |
| NM_001271010.2:c.891C>T | NP_001257939.1:p.His297= | |
| NM_001271012.2:c.510C>T | NP_001257941.1:p.His170= |