Linked Data
dbSNP Id:
rs370486550
ExAC:
11:70319408 G / T
gnomAD v2:
11-70319408-G-T
gnomAD v4:
11-70473303-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473303G>T , CM000673.2:g.70473303G>T | GRCh38 |
| NC_000011.9:g.70319408G>T , CM000673.1:g.70319408G>T | GRCh37 |
| NC_000011.8:g.69997056G>T | NCBI36 |
| NG_042866.1:g.656494C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3349C>A | ENSP00000345193.7:p.Arg1117Ser | |
| ENST00000412252.6:c.894C>A | ENSP00000414876.2:n.894C>A | |
| ENST00000601538.6:c.5116C>A MANE Select | ENSP00000469689.2:p.Arg1706Ser | |
| ENST00000654939.1:c.2625C>A | ||
| ENST00000656230.1:c.3979C>A | ENSP00000499561.1:p.Arg1327Ser | |
| ENST00000659264.1:c.3406C>A | ENSP00000499270.1:p.Arg1136Ser | |
| ENST00000338508.8:c.3352C>A | ENSP00000345193.6:p.Arg1118Ser | |
| ENST00000357171.7:c.*120C>A | ENSP00000349694.4:n.*120C>A | |
| ENST00000409161.5:c.3328C>A | ENSP00000386491.1:p.Arg1110Ser | |
| ENST00000412252.5:c.892C>A | ||
| ENST00000423696.6:c.3979C>A | ENSP00000394536.2:p.Arg1327Ser | |
| ENST00000424924.5:c.2953C>A | ENSP00000402944.1:p.Arg985Ser | |
| ENST00000449833.6:c.3352C>A | ENSP00000399423.3:p.Arg1118Ser | |
| ENST00000601538.5:c.5116C>A | ENSP00000469689.2:p.Arg1706Ser | |
| ENST00000606715.3:n.1868C>A | ||
| NM_012309.4:c.5116C>A | NP_036441.2:p.Arg1706Ser | |
| NM_133266.4:c.3352C>A | NP_573573.2:p.Arg1118Ser | |
| NR_110766.1:n.970C>A | ||
| XM_005277930.2:c.5116C>A | XP_005277987.1:p.Arg1706Ser | |
| XM_005277932.2:c.3979C>A | XP_005277989.1:p.Arg1327Ser | |
| XM_006718478.2:c.5086C>A | XP_006718541.1:p.Arg1696Ser | |
| XM_011544854.1:c.5128C>A | XP_011543156.1:p.Arg1710Ser | |
| XM_011544855.1:c.5107C>A | XP_011543157.1:p.Arg1703Ser | |
| XM_011544856.1:c.5101C>A | XP_011543158.1:p.Arg1701Ser | |
| XM_011544857.1:c.5080C>A | XP_011543159.1:p.Arg1694Ser | |
| XM_011544859.1:c.3991C>A | XP_011543161.1:p.Arg1331Ser | |
| XM_005277932.3:c.3979C>A | XP_005277989.1:p.Arg1327Ser | |
| XM_017017387.1:c.5116C>A | XP_016872876.1:p.Arg1706Ser | |
| XM_017017388.1:c.5116C>A | XP_016872877.1:p.Arg1706Ser | |
| XM_017017389.1:c.5089C>A | XP_016872878.1:p.Arg1697Ser | |
| XM_017017390.1:c.3406C>A | XP_016872879.1:p.Arg1136Ser | |
| NM_133266.5:c.3352C>A | NP_573573.2:p.Arg1118Ser | |
| NR_110766.2:n.971C>A | ||
| NM_001379226.1:c.3979C>A | NP_001366155.1:p.Arg1327Ser | |
| NM_012309.5:c.5116C>A MANE Select | NP_036441.2:p.Arg1706Ser |