Linked Data
dbSNP Id:
rs782339041
ExAC:
11:70319385 C / T
gnomAD v2:
11-70319385-C-T
gnomAD v3:
11-70473280-C-T
gnomAD v4:
11-70473280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473280C>T , CM000673.2:g.70473280C>T | GRCh38 |
| NC_000011.9:g.70319385C>T , CM000673.1:g.70319385C>T | GRCh37 |
| NC_000011.8:g.69997033C>T | NCBI36 |
| NG_042866.1:g.656517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3372G>A | ENSP00000345193.7:p.Ser1124= | |
| ENST00000412252.6:c.917G>A | ENSP00000414876.2:n.917G>A | |
| ENST00000601538.6:c.5139G>A MANE Select | ENSP00000469689.2:p.Ser1713= | |
| ENST00000654939.1:c.2648G>A | ||
| ENST00000656230.1:c.4002G>A | ENSP00000499561.1:p.Ser1334= | |
| ENST00000659264.1:c.3429G>A | ENSP00000499270.1:p.Ser1143= | |
| ENST00000338508.8:c.3375G>A | ENSP00000345193.6:p.Ser1125= | |
| ENST00000357171.7:c.*143G>A | ENSP00000349694.4:n.*143G>A | |
| ENST00000409161.5:c.3351G>A | ENSP00000386491.1:p.Ser1117= | |
| ENST00000412252.5:c.915G>A | ||
| ENST00000423696.6:c.4002G>A | ENSP00000394536.2:p.Ser1334= | |
| ENST00000424924.5:c.2976G>A | ENSP00000402944.1:p.Ser992= | |
| ENST00000449833.6:c.3375G>A | ENSP00000399423.3:p.Ser1125= | |
| ENST00000601538.5:c.5139G>A | ENSP00000469689.2:p.Ser1713= | |
| ENST00000606715.3:n.1891G>A | ||
| NM_012309.4:c.5139G>A | NP_036441.2:p.Ser1713= | |
| NM_133266.4:c.3375G>A | NP_573573.2:p.Ser1125= | |
| NR_110766.1:n.993G>A | ||
| XM_005277930.2:c.5139G>A | XP_005277987.1:p.Ser1713= | |
| XM_005277932.2:c.4002G>A | XP_005277989.1:p.Ser1334= | |
| XM_006718478.2:c.5109G>A | XP_006718541.1:p.Ser1703= | |
| XM_011544854.1:c.5151G>A | XP_011543156.1:p.Ser1717= | |
| XM_011544855.1:c.5130G>A | XP_011543157.1:p.Ser1710= | |
| XM_011544856.1:c.5124G>A | XP_011543158.1:p.Ser1708= | |
| XM_011544857.1:c.5103G>A | XP_011543159.1:p.Ser1701= | |
| XM_011544859.1:c.4014G>A | XP_011543161.1:p.Ser1338= | |
| XM_005277932.3:c.4002G>A | XP_005277989.1:p.Ser1334= | |
| XM_017017387.1:c.5139G>A | XP_016872876.1:p.Ser1713= | |
| XM_017017388.1:c.5139G>A | XP_016872877.1:p.Ser1713= | |
| XM_017017389.1:c.5112G>A | XP_016872878.1:p.Ser1704= | |
| XM_017017390.1:c.3429G>A | XP_016872879.1:p.Ser1143= | |
| NM_133266.5:c.3375G>A | NP_573573.2:p.Ser1125= | |
| NR_110766.2:n.994G>A | ||
| NM_001379226.1:c.4002G>A | NP_001366155.1:p.Ser1334= | |
| NM_012309.5:c.5139G>A MANE Select | NP_036441.2:p.Ser1713= |