Linked Data
dbSNP Id:
rs754954464
ExAC:
4:111026729 G / A
gnomAD v2:
4-111026729-G-A
gnomAD v4:
4-110105573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110105573G>A , CM000666.2:g.110105573G>A | GRCh38 |
| NC_000004.11:g.111026729G>A , CM000666.1:g.111026729G>A | GRCh37 |
| NC_000004.10:g.111246178G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302274.8:c.145C>T MANE Select | ENSP00000304736.3:p.His49Tyr | |
| ENST00000302274.7:c.145C>T | ENSP00000304736.3:p.His49Tyr | |
| ENST00000394607.7:c.145C>T | ENSP00000378105.3:p.His49Tyr | |
| ENST00000503885.1:c.145C>T | ENSP00000426086.1:p.His49Tyr | |
| ENST00000506461.1:n.360C>T | ||
| ENST00000506625.5:c.145C>T | ENSP00000425488.1:p.His49Tyr | |
| ENST00000514184.5:c.145C>T | ENSP00000424023.1:p.His49Tyr | |
| NM_001130721.1:c.145C>T | NP_001124193.1:p.His49Tyr | |
| NM_024090.2:c.145C>T | NP_076995.1:p.His49Tyr | |
| XM_011532233.1:c.145C>T | XP_011530535.1:p.His49Tyr | |
| XM_011532234.1:c.145C>T | XP_011530536.1:p.His49Tyr | |
| XM_011532235.1:c.-137C>T | XP_011530537.1:n.-137C>T | |
| XM_011532233.3:c.145C>T | XP_011530535.1:p.His49Tyr | |
| XM_011532234.3:c.145C>T | XP_011530536.1:p.His49Tyr | |
| NM_001130721.2:c.145C>T | NP_001124193.1:p.His49Tyr | |
| NM_024090.3:c.145C>T MANE Select | NP_076995.1:p.His49Tyr |