Linked Data
ClinVar Variation Id:
2927323
ClinVar RCV Id:
RCV003781513
dbSNP Id:
rs772025392
ExAC:
1:154562248 C / T
gnomAD v2:
1-154562248-C-T
gnomAD v3:
1-154589772-C-T
gnomAD v4:
1-154589772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154589772C>T , CM000663.2:g.154589772C>T | GRCh38 |
| NC_000001.10:g.154562248C>T , CM000663.1:g.154562248C>T | GRCh37 |
| NC_000001.9:g.152828872C>T | NCBI36 |
| NG_011844.1:g.43190G>A | |
| NG_011844.2:g.46789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.2547G>A | ENSP00000497790.2:n.2547G>A | |
| ENST00000649724.2:c.2683G>A | ENSP00000497932.2:p.Val895Ile | |
| ENST00000680270.2:c.2536G>A | ENSP00000505532.2:p.Val846Ile | |
| ENST00000681056.2:c.2305G>A | ENSP00000506234.2:p.Val769Ile | |
| ENST00000368471.8:c.1768G>A | ENSP00000357456.3:p.Val590Ile | |
| ENST00000368474.9:c.2653G>A MANE Select | ENSP00000357459.4:p.Val885Ile | |
| ENST00000529168.2:c.2575G>A | ENSP00000431794.2:p.Val859Ile | |
| ENST00000647682.2:n.2638G>A | ||
| ENST00000648231.2:c.1768G>A | ENSP00000497555.1:p.Val590Ile | |
| ENST00000648311.1:c.1768G>A | ENSP00000498137.1:p.Val590Ile | |
| ENST00000648714.2:c.*128G>A | ENSP00000497434.2:n.*128G>A | |
| ENST00000649021.1:n.2689G>A | ||
| ENST00000649022.2:c.1768G>A | ENSP00000496896.2:p.Val590Ile | |
| ENST00000649042.1:c.1768G>A | ENSP00000497790.1:p.Val590Ile | |
| ENST00000649408.2:c.2653G>A | ENSP00000497386.2:p.Val885Ile | |
| ENST00000649724.1:c.1768G>A | ENSP00000497932.1:p.Val590Ile | |
| ENST00000649749.1:c.1768G>A | ENSP00000497210.1:p.Val590Ile | |
| ENST00000679375.1:c.*885G>A | ENSP00000505887.1:n.*885G>A | |
| ENST00000679465.1:n.3106G>A | ||
| ENST00000679805.1:n.2689G>A | ||
| ENST00000679899.1:c.1711G>A | ENSP00000505996.1:p.Val571Ile | |
| ENST00000680270.1:c.1768G>A | ENSP00000505532.1:p.Val590Ile | |
| ENST00000680305.1:c.2653G>A | ENSP00000506312.1:p.Val885Ile | |
| ENST00000681056.1:c.1768G>A | ENSP00000506234.1:p.Val590Ile | |
| ENST00000681235.1:c.*2175G>A | ENSP00000506606.1:n.*2175G>A | |
| ENST00000681429.1:n.1913G>A | ||
| ENST00000681683.1:c.1768G>A | ENSP00000506666.1:p.Val590Ile | |
| ENST00000681786.1:n.3106G>A | ||
| ENST00000681901.1:c.*2253G>A | ENSP00000504883.1:n.*2253G>A | |
| ENST00000368471.7:c.1768G>A | ENSP00000357456.3:p.Val590Ile | |
| ENST00000368474.8:c.2653G>A | ENSP00000357459.4:p.Val885Ile | |
| ENST00000529168.1:c.2560G>A | ENSP00000431794.1:p.Val854Ile | |
| NM_001025107.2:c.1768G>A | NP_001020278.1:p.Val590Ile | |
| NM_001111.4:c.2653G>A | NP_001102.2:p.Val885Ile | |
| NM_001193495.1:c.1768G>A | NP_001180424.1:p.Val590Ile | |
| NM_015840.3:c.2575G>A | NP_056655.2:p.Val859Ile | |
| NM_015841.3:c.2518G>A | NP_056656.2:p.Val840Ile | |
| XM_006711109.1:c.2683G>A | XP_006711172.1:p.Val895Ile | |
| XM_006711111.2:c.1768G>A | XP_006711174.1:p.Val590Ile | |
| XM_006711112.1:c.1768G>A | XP_006711175.1:p.Val590Ile | |
| XM_006711113.1:c.1768G>A | XP_006711176.1:p.Val590Ile | |
| XM_011509060.1:c.2782G>A | XP_011507362.1:p.Val928Ile | |
| XM_011509061.1:c.2704G>A | XP_011507363.1:p.Val902Ile | |
| XM_011509062.1:c.2671G>A | XP_011507364.1:p.Val891Ile | |
| NM_001025107.3:c.1768G>A | NP_001020278.1:p.Val590Ile | |
| NM_001111.5:c.2653G>A MANE Select | NP_001102.3:p.Val885Ile | |
| NM_001193495.2:c.1768G>A | NP_001180424.1:p.Val590Ile | |
| NM_001365045.1:c.2680G>A | NP_001351974.1:p.Val894Ile | |
| NM_001365046.1:c.1768G>A | NP_001351975.1:p.Val590Ile | |
| NM_001365047.1:c.1768G>A | NP_001351976.1:p.Val590Ile | |
| NM_001365048.1:c.1768G>A | NP_001351977.1:p.Val590Ile | |
| NM_001365049.1:c.1690G>A | NP_001351978.1:p.Val564Ile | |
| NM_015840.4:c.2575G>A | NP_056655.3:p.Val859Ile | |
| NM_015841.4:c.2518G>A | NP_056656.3:p.Val840Ile | |
| XM_006711113.2:c.1768G>A | XP_006711176.1:p.Val590Ile | |
| XM_011509061.2:c.1690G>A | XP_011507363.2:p.Val564Ile | |
| XM_024449674.1:c.2782G>A | XP_024305442.1:p.Val928Ile |