Linked Data
ClinVar Variation Id:
313305
dbSNP Id:
rs149340140
ExAC:
14:51094802 C / T
gnomAD v2:
14-51094802-C-T
gnomAD v3:
14-50628084-C-T
gnomAD v4:
14-50628084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628084C>T , CM000676.2:g.50628084C>T | GRCh38 |
| NC_000014.8:g.51094802C>T , CM000676.1:g.51094802C>T | GRCh37 |
| NC_000014.7:g.50164552C>T | NCBI36 |
| NG_009028.1:g.100003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553509.2:c.1173C>T | ENSP00000450989.2:p.His391= | |
| ENST00000556478.3:c.1173C>T | ENSP00000501428.2:p.His391= | |
| ENST00000682037.1:c.1173C>T | ENSP00000508289.1:p.His391= | |
| ENST00000682219.1:n.2511C>T | ||
| ENST00000683037.1:n.1094C>T | ||
| ENST00000683330.1:n.1507C>T | ||
| ENST00000358385.12:c.1173C>T MANE Select | ENSP00000351155.7:p.His391= | |
| ENST00000674288.1:c.*2465C>T | ENSP00000501522.1:n.*2465C>T | |
| ENST00000358385.10:c.1173C>T | ENSP00000351155.6:p.His391= | |
| ENST00000441560.6:c.1173C>T | ENSP00000413675.2:p.His391= | |
| ENST00000555266.1:c.316C>T | ENSP00000450897.1:n.316C>T | |
| NM_001127713.1:c.1173C>T | NP_001121185.1:p.His391= | |
| NM_015915.4:c.1173C>T | NP_056999.2:p.His391= | |
| NM_181598.3:c.1173C>T | NP_853629.2:p.His391= | |
| NM_015915.5:c.1173C>T MANE Select | NP_056999.2:p.His391= | |
| NM_181598.4:c.1173C>T | NP_853629.2:p.His391= |