Linked Data
ClinVar Variation Id:
2672475
ClinVar RCV Id:
RCV003456782
dbSNP Id:
rs781786453
ExAC:
11:70319339 C / T
gnomAD v2:
11-70319339-C-T
gnomAD v3:
11-70473234-C-T
gnomAD v4:
11-70473234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473234C>T , CM000673.2:g.70473234C>T | GRCh38 |
| NC_000011.9:g.70319339C>T , CM000673.1:g.70319339C>T | GRCh37 |
| NC_000011.8:g.69996987C>T | NCBI36 |
| NG_042866.1:g.656563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3418G>A | ENSP00000345193.7:p.Ala1140Thr | |
| ENST00000412252.6:c.963G>A | ENSP00000414876.2:n.963G>A | |
| ENST00000601538.6:c.5185G>A MANE Select | ENSP00000469689.2:p.Ala1729Thr | |
| ENST00000654939.1:c.2694G>A | ||
| ENST00000656230.1:c.4048G>A | ENSP00000499561.1:p.Ala1350Thr | |
| ENST00000659264.1:c.3475G>A | ENSP00000499270.1:p.Ala1159Thr | |
| ENST00000338508.8:c.3421G>A | ENSP00000345193.6:p.Ala1141Thr | |
| ENST00000357171.7:c.*189G>A | ENSP00000349694.4:n.*189G>A | |
| ENST00000409161.5:c.3397G>A | ENSP00000386491.1:p.Ala1133Thr | |
| ENST00000412252.5:c.961G>A | ||
| ENST00000423696.6:c.4048G>A | ENSP00000394536.2:p.Ala1350Thr | |
| ENST00000424924.5:c.3022G>A | ENSP00000402944.1:p.Ala1008Thr | |
| ENST00000449833.6:c.3421G>A | ENSP00000399423.3:p.Ala1141Thr | |
| ENST00000601538.5:c.5185G>A | ENSP00000469689.2:p.Ala1729Thr | |
| ENST00000606715.3:n.1937G>A | ||
| NM_012309.4:c.5185G>A | NP_036441.2:p.Ala1729Thr | |
| NM_133266.4:c.3421G>A | NP_573573.2:p.Ala1141Thr | |
| NR_110766.1:n.1039G>A | ||
| XM_005277930.2:c.5185G>A | XP_005277987.1:p.Ala1729Thr | |
| XM_005277932.2:c.4048G>A | XP_005277989.1:p.Ala1350Thr | |
| XM_006718478.2:c.5155G>A | XP_006718541.1:p.Ala1719Thr | |
| XM_011544854.1:c.5197G>A | XP_011543156.1:p.Ala1733Thr | |
| XM_011544855.1:c.5176G>A | XP_011543157.1:p.Ala1726Thr | |
| XM_011544856.1:c.5170G>A | XP_011543158.1:p.Ala1724Thr | |
| XM_011544857.1:c.5149G>A | XP_011543159.1:p.Ala1717Thr | |
| XM_011544859.1:c.4060G>A | XP_011543161.1:p.Ala1354Thr | |
| XM_005277932.3:c.4048G>A | XP_005277989.1:p.Ala1350Thr | |
| XM_017017387.1:c.5185G>A | XP_016872876.1:p.Ala1729Thr | |
| XM_017017388.1:c.5185G>A | XP_016872877.1:p.Ala1729Thr | |
| XM_017017389.1:c.5158G>A | XP_016872878.1:p.Ala1720Thr | |
| XM_017017390.1:c.3475G>A | XP_016872879.1:p.Ala1159Thr | |
| NM_133266.5:c.3421G>A | NP_573573.2:p.Ala1141Thr | |
| NR_110766.2:n.1040G>A | ||
| NM_001379226.1:c.4048G>A | NP_001366155.1:p.Ala1350Thr | |
| NM_012309.5:c.5185G>A MANE Select | NP_036441.2:p.Ala1729Thr |