Linked Data
ClinVar Variation Id:
162095
dbSNP Id:
rs201106962
ExAC:
4:90749307 A / C
gnomAD v2:
4-90749307-A-C
gnomAD v3:
4-89828156-A-C
gnomAD v4:
4-89828156-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89828156A>C , CM000666.2:g.89828156A>C | GRCh38 |
| NC_000004.11:g.90749307A>C , CM000666.1:g.90749307A>C | GRCh37 |
| NC_000004.10:g.90968330A>C | NCBI36 |
| NG_011851.1:g.15141T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.150T>G MANE Select | ENSP00000378442.4:p.His50Gln | |
| ENST00000673718.1:c.150T>G | ENSP00000500990.1:p.His50Gln | |
| ENST00000673902.1:c.150T>G | ENSP00000501102.1:p.His50Gln | |
| ENST00000674129.1:c.150T>G | ENSP00000501269.1:p.His50Gln | |
| ENST00000336904.7:c.150T>G | ENSP00000338345.3:p.His50Gln | |
| ENST00000345009.8:c.150T>G | ENSP00000343683.4:p.His50Gln | |
| ENST00000394986.5:c.150T>G | ENSP00000378437.1:p.His50Gln | |
| ENST00000394989.6:c.122-5768T>G | ENSP00000378440.2:n.122-5768T>G | |
| ENST00000394991.7:c.150T>G | ENSP00000378442.3:p.His50Gln | |
| ENST00000420646.6:c.150T>G | ENSP00000396241.2:p.His50Gln | |
| ENST00000502987.5:c.150T>G | ENSP00000426034.1:p.His50Gln | |
| ENST00000505199.5:c.122-5768T>G | ENSP00000421485.1:n.122-5768T>G | |
| ENST00000506244.5:c.150T>G | ENSP00000422238.1:p.His50Gln | |
| ENST00000506691.1:c.150T>G | ENSP00000423445.1:p.His50Gln | |
| ENST00000508895.5:c.150T>G | ENSP00000426955.1:p.His50Gln | |
| ENST00000611107.1:c.122-5768T>G | ENSP00000479604.1:n.122-5768T>G | |
| ENST00000618500.4:c.122-5768T>G | ENSP00000484044.1:n.122-5768T>G | |
| NM_000345.3:c.150T>G | NP_000336.1:p.His50Gln | |
| NM_001146054.1:c.150T>G | NP_001139526.1:p.His50Gln | |
| NM_001146055.1:c.150T>G | NP_001139527.1:p.His50Gln | |
| NM_007308.2:c.150T>G | NP_009292.1:p.His50Gln | |
| XM_011532203.1:c.150T>G | XP_011530505.1:p.His50Gln | |
| XM_011532204.1:c.150T>G | XP_011530506.1:p.His50Gln | |
| XM_011532205.1:c.150T>G | XP_011530507.1:p.His50Gln | |
| XM_011532206.1:c.150T>G | XP_011530508.1:p.His50Gln | |
| XM_011532207.1:c.150T>G | XP_011530509.1:p.His50Gln | |
| XM_011532208.1:c.150T>G | XP_011530510.1:p.His50Gln | |
| XM_011532204.3:c.150T>G | XP_011530506.1:p.His50Gln | |
| XM_011532205.2:c.150T>G | XP_011530507.1:p.His50Gln | |
| XM_011532208.2:c.150T>G | XP_011530510.1:p.His50Gln | |
| XM_017008562.1:c.150T>G | XP_016864051.1:p.His50Gln | |
| XM_017008563.1:c.150T>G | XP_016864052.1:p.His50Gln | |
| NM_000345.4:c.150T>G MANE Select | NP_000336.1:p.His50Gln | |
| NM_001146054.2:c.150T>G | NP_001139526.1:p.His50Gln | |
| NM_001146055.2:c.150T>G | NP_001139527.1:p.His50Gln | |
| NM_001375285.1:c.150T>G | NP_001362214.1:p.His50Gln | |
| NM_001375286.1:c.150T>G | NP_001362215.1:p.His50Gln | |
| NM_001375287.1:c.150T>G | NP_001362216.1:p.His50Gln | |
| NM_001375288.1:c.150T>G | NP_001362217.1:p.His50Gln | |
| NR_164674.1:n.228T>G | ||
| NR_164675.1:n.375T>G | ||
| NR_164676.1:n.448T>G | ||
| NM_007308.3:c.150T>G | NP_009292.1:p.His50Gln |