Linked Data
ClinVar Variation Id:
212164
ClinVar RCV Id:
RCV000193454
dbSNP Id:
rs782311249
ExAC:
11:70332268 G / A
gnomAD v2:
11-70332268-G-A
gnomAD v3:
11-70486163-G-A
gnomAD v4:
11-70486163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70486163G>A , CM000673.2:g.70486163G>A | GRCh38 |
| NC_000011.9:g.70332268G>A , CM000673.1:g.70332268G>A | GRCh37 |
| NC_000011.8:g.70009916G>A | NCBI36 |
| NG_042866.1:g.643634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.2363C>T | ENSP00000345193.7:p.Ala788Val | |
| ENST00000412252.6:c.757+4140C>T | ENSP00000414876.2:n.757+4140C>T | |
| ENST00000601538.6:c.4130C>T MANE Select | ENSP00000469689.2:p.Ala1377Val | |
| ENST00000654939.1:c.1558C>T | ||
| ENST00000656230.1:c.2993C>T | ENSP00000499561.1:p.Ala998Val | |
| ENST00000659264.1:c.2420C>T | ENSP00000499270.1:p.Ala807Val | |
| ENST00000338508.8:c.2366C>T | ENSP00000345193.6:p.Ala789Val | |
| ENST00000357171.7:c.718+4140C>T | ENSP00000349694.4:n.718+4140C>T | |
| ENST00000409161.5:c.2342C>T | ENSP00000386491.1:p.Ala781Val | |
| ENST00000412252.5:c.755+4140C>T | ||
| ENST00000423696.6:c.2993C>T | ENSP00000394536.2:p.Ala998Val | |
| ENST00000424924.5:c.1967C>T | ENSP00000402944.1:p.Ala656Val | |
| ENST00000449833.6:c.2366C>T | ENSP00000399423.3:p.Ala789Val | |
| ENST00000601538.5:c.4130C>T | ENSP00000469689.2:p.Ala1377Val | |
| NM_012309.4:c.4130C>T | NP_036441.2:p.Ala1377Val | |
| NM_133266.4:c.2366C>T | NP_573573.2:p.Ala789Val | |
| NR_110766.1:n.833+4140C>T | ||
| XM_005277930.2:c.4130C>T | XP_005277987.1:p.Ala1377Val | |
| XM_005277932.2:c.2993C>T | XP_005277989.1:p.Ala998Val | |
| XM_006718478.2:c.4100C>T | XP_006718541.1:p.Ala1367Val | |
| XM_011544854.1:c.4142C>T | XP_011543156.1:p.Ala1381Val | |
| XM_011544855.1:c.4121C>T | XP_011543157.1:p.Ala1374Val | |
| XM_011544856.1:c.4115C>T | XP_011543158.1:p.Ala1372Val | |
| XM_011544857.1:c.4094C>T | XP_011543159.1:p.Ala1365Val | |
| XM_011544858.1:c.4142C>T | XP_011543160.1:p.Ala1381Val | |
| XM_011544859.1:c.3005C>T | XP_011543161.1:p.Ala1002Val | |
| XM_005277932.3:c.2993C>T | XP_005277989.1:p.Ala998Val | |
| XM_017017387.1:c.4130C>T | XP_016872876.1:p.Ala1377Val | |
| XM_017017388.1:c.4130C>T | XP_016872877.1:p.Ala1377Val | |
| XM_017017389.1:c.4103C>T | XP_016872878.1:p.Ala1368Val | |
| XM_017017390.1:c.2420C>T | XP_016872879.1:p.Ala807Val | |
| NM_133266.5:c.2366C>T | NP_573573.2:p.Ala789Val | |
| NR_110766.2:n.834+4140C>T | ||
| NM_001379226.1:c.2993C>T | NP_001366155.1:p.Ala998Val | |
| NM_012309.5:c.4130C>T MANE Select | NP_036441.2:p.Ala1377Val |