Linked Data
dbSNP Id:
rs781822283
ExAC:
11:70319245 C / T
gnomAD v2:
11-70319245-C-T
gnomAD v3:
11-70473140-C-T
gnomAD v4:
11-70473140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473140C>T , CM000673.2:g.70473140C>T | GRCh38 |
| NC_000011.9:g.70319245C>T , CM000673.1:g.70319245C>T | GRCh37 |
| NC_000011.8:g.69996893C>T | NCBI36 |
| NG_042866.1:g.656657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3512G>A | ENSP00000345193.7:p.Arg1171His | |
| ENST00000412252.6:c.1057G>A | ENSP00000414876.2:n.1057G>A | |
| ENST00000601538.6:c.5279G>A MANE Select | ENSP00000469689.2:p.Arg1760His | |
| ENST00000654939.1:c.2788G>A | ||
| ENST00000656230.1:c.4142G>A | ENSP00000499561.1:p.Arg1381His | |
| ENST00000659264.1:c.3569G>A | ENSP00000499270.1:p.Arg1190His | |
| ENST00000338508.8:c.3515G>A | ENSP00000345193.6:p.Arg1172His | |
| ENST00000357171.7:c.*283G>A | ENSP00000349694.4:n.*283G>A | |
| ENST00000409161.5:c.3491G>A | ENSP00000386491.1:p.Arg1164His | |
| ENST00000412252.5:c.1055G>A | ||
| ENST00000423696.6:c.4142G>A | ENSP00000394536.2:p.Arg1381His | |
| ENST00000424924.5:c.3116G>A | ENSP00000402944.1:p.Arg1039His | |
| ENST00000449833.6:c.3515G>A | ENSP00000399423.3:p.Arg1172His | |
| ENST00000601538.5:c.5279G>A | ENSP00000469689.2:p.Arg1760His | |
| ENST00000606715.3:n.2031G>A | ||
| NM_012309.4:c.5279G>A | NP_036441.2:p.Arg1760His | |
| NM_133266.4:c.3515G>A | NP_573573.2:p.Arg1172His | |
| NR_110766.1:n.1133G>A | ||
| XM_005277930.2:c.5279G>A | XP_005277987.1:p.Arg1760His | |
| XM_005277932.2:c.4142G>A | XP_005277989.1:p.Arg1381His | |
| XM_006718478.2:c.5249G>A | XP_006718541.1:p.Arg1750His | |
| XM_011544854.1:c.5291G>A | XP_011543156.1:p.Arg1764His | |
| XM_011544855.1:c.5270G>A | XP_011543157.1:p.Arg1757His | |
| XM_011544856.1:c.5264G>A | XP_011543158.1:p.Arg1755His | |
| XM_011544857.1:c.5243G>A | XP_011543159.1:p.Arg1748His | |
| XM_011544859.1:c.4154G>A | XP_011543161.1:p.Arg1385His | |
| XM_005277932.3:c.4142G>A | XP_005277989.1:p.Arg1381His | |
| XM_017017387.1:c.5279G>A | XP_016872876.1:p.Arg1760His | |
| XM_017017388.1:c.5279G>A | XP_016872877.1:p.Arg1760His | |
| XM_017017389.1:c.5252G>A | XP_016872878.1:p.Arg1751His | |
| XM_017017390.1:c.3569G>A | XP_016872879.1:p.Arg1190His | |
| NM_133266.5:c.3515G>A | NP_573573.2:p.Arg1172His | |
| NR_110766.2:n.1134G>A | ||
| NM_001379226.1:c.4142G>A | NP_001366155.1:p.Arg1381His | |
| NM_012309.5:c.5279G>A MANE Select | NP_036441.2:p.Arg1760His |