Linked Data
dbSNP Id:
rs782202659
ExAC:
11:70319214 T / G
gnomAD v2:
11-70319214-T-G
gnomAD v4:
11-70473109-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473109T>G , CM000673.2:g.70473109T>G | GRCh38 |
| NC_000011.9:g.70319214T>G , CM000673.1:g.70319214T>G | GRCh37 |
| NC_000011.8:g.69996862T>G | NCBI36 |
| NG_042866.1:g.656688A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3543A>C | ENSP00000345193.7:p.Gln1181His | |
| ENST00000412252.6:c.1088A>C | ENSP00000414876.2:n.1088A>C | |
| ENST00000601538.6:c.5310A>C MANE Select | ENSP00000469689.2:p.Gln1770His | |
| ENST00000654939.1:c.2819A>C | ||
| ENST00000656230.1:c.4173A>C | ENSP00000499561.1:p.Gln1391His | |
| ENST00000659264.1:c.3600A>C | ENSP00000499270.1:p.Gln1200His | |
| ENST00000338508.8:c.3546A>C | ENSP00000345193.6:p.Gln1182His | |
| ENST00000357171.7:c.*314A>C | ENSP00000349694.4:n.*314A>C | |
| ENST00000409161.5:c.3522A>C | ENSP00000386491.1:p.Gln1174His | |
| ENST00000412252.5:c.1086A>C | ||
| ENST00000423696.6:c.4173A>C | ENSP00000394536.2:p.Gln1391His | |
| ENST00000424924.5:c.3147A>C | ENSP00000402944.1:p.Gln1049His | |
| ENST00000449833.6:c.3546A>C | ENSP00000399423.3:p.Gln1182His | |
| ENST00000601538.5:c.5310A>C | ENSP00000469689.2:p.Gln1770His | |
| ENST00000606715.3:n.2062A>C | ||
| NM_012309.4:c.5310A>C | NP_036441.2:p.Gln1770His | |
| NM_133266.4:c.3546A>C | NP_573573.2:p.Gln1182His | |
| NR_110766.1:n.1164A>C | ||
| XM_005277930.2:c.5310A>C | XP_005277987.1:p.Gln1770His | |
| XM_005277932.2:c.4173A>C | XP_005277989.1:p.Gln1391His | |
| XM_006718478.2:c.5280A>C | XP_006718541.1:p.Gln1760His | |
| XM_011544854.1:c.5322A>C | XP_011543156.1:p.Gln1774His | |
| XM_011544855.1:c.5301A>C | XP_011543157.1:p.Gln1767His | |
| XM_011544856.1:c.5295A>C | XP_011543158.1:p.Gln1765His | |
| XM_011544857.1:c.5274A>C | XP_011543159.1:p.Gln1758His | |
| XM_011544859.1:c.4185A>C | XP_011543161.1:p.Gln1395His | |
| XM_005277932.3:c.4173A>C | XP_005277989.1:p.Gln1391His | |
| XM_017017387.1:c.5310A>C | XP_016872876.1:p.Gln1770His | |
| XM_017017388.1:c.5310A>C | XP_016872877.1:p.Gln1770His | |
| XM_017017389.1:c.5283A>C | XP_016872878.1:p.Gln1761His | |
| XM_017017390.1:c.3600A>C | XP_016872879.1:p.Gln1200His | |
| NM_133266.5:c.3546A>C | NP_573573.2:p.Gln1182His | |
| NR_110766.2:n.1165A>C | ||
| NM_001379226.1:c.4173A>C | NP_001366155.1:p.Gln1391His | |
| NM_012309.5:c.5310A>C MANE Select | NP_036441.2:p.Gln1770His |