Linked Data
ClinVar Variation Id:
198380
ClinVar RCV Id:
RCV000179695
dbSNP Id:
rs794727833
gnomAD v4:
1-75739980-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75739980G>A , CM000663.2:g.75739980G>A | GRCh38 |
| NC_000001.10:g.76205665G>A , CM000663.1:g.76205665G>A | GRCh37 |
| NC_000001.9:g.75978253G>A | NCBI36 |
| NG_007045.2:g.20623G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.469G>A MANE Select | ENSP00000359878.5:p.Ala157Thr | |
| ENST00000473018.3:n.2593G>A | ||
| ENST00000541113.6:c.469G>A | ENSP00000442324.2:p.Ala157Thr | |
| ENST00000679509.1:n.1431G>A | ||
| ENST00000679530.1:c.*237G>A | ENSP00000506454.1:n.*237G>A | |
| ENST00000679615.1:n.2593G>A | ||
| ENST00000679687.1:c.31G>A | ENSP00000506598.1:p.Ala11Thr | |
| ENST00000679704.1:c.*235G>A | ENSP00000505117.1:n.*235G>A | |
| ENST00000679709.1:c.*432G>A | ENSP00000506623.1:n.*432G>A | |
| ENST00000679804.1:n.208G>A | ||
| ENST00000679976.1:c.*53G>A | ENSP00000505565.1:n.*53G>A | |
| ENST00000680166.1:n.3758G>A | ||
| ENST00000680517.1:c.287G>A | ENSP00000505803.1:p.Gly96Asp | |
| ENST00000680582.1:n.1431G>A | ||
| ENST00000680613.1:c.469G>A | ENSP00000506114.1:p.Ala157Thr | |
| ENST00000680662.1:c.*383G>A | ENSP00000505080.1:n.*383G>A | |
| ENST00000680691.1:c.*132G>A | ENSP00000506487.1:n.*132G>A | |
| ENST00000680694.1:c.*57G>A | ENSP00000505658.1:n.*57G>A | |
| ENST00000680743.1:c.*136G>A | ENSP00000505073.1:n.*136G>A | |
| ENST00000680749.1:c.469G>A | ENSP00000505122.1:p.Ala157Thr | |
| ENST00000680798.1:c.*53G>A | ENSP00000505670.1:n.*53G>A | |
| ENST00000680805.1:c.469G>A | ENSP00000505447.1:p.Ala157Thr | |
| ENST00000680844.1:c.*253G>A | ENSP00000506541.1:n.*253G>A | |
| ENST00000680948.1:c.*336G>A | ENSP00000505441.1:n.*336G>A | |
| ENST00000680964.1:c.469G>A | ENSP00000505961.1:p.Ala157Thr | |
| ENST00000681037.1:c.469G>A | ENSP00000506025.1:p.Ala157Thr | |
| ENST00000681063.1:c.469G>A | ENSP00000506616.1:p.Ala157Thr | |
| ENST00000681209.1:c.*233G>A | ENSP00000505877.1:n.*233G>A | |
| ENST00000681278.1:n.826G>A | ||
| ENST00000681289.1:n.826G>A | ||
| ENST00000681361.1:c.*136G>A | ENSP00000506679.1:n.*136G>A | |
| ENST00000681430.1:c.469G>A | ENSP00000506301.1:p.Ala157Thr | |
| ENST00000681446.1:c.*51G>A | ENSP00000506244.1:n.*51G>A | |
| ENST00000681450.1:c.*140G>A | ENSP00000505660.1:n.*140G>A | |
| ENST00000681548.1:c.*55G>A | ENSP00000505275.1:n.*55G>A | |
| ENST00000681616.1:c.*237G>A | ENSP00000505111.1:n.*237G>A | |
| ENST00000681621.1:c.*53G>A | ENSP00000505770.1:n.*53G>A | |
| ENST00000681680.1:n.2593G>A | ||
| ENST00000681720.1:c.*55-5826G>A | ENSP00000505438.1:n.*55-5826G>A | |
| ENST00000681730.1:n.691G>A | ||
| ENST00000681790.1:c.211G>A | ENSP00000505130.1:p.Ala71Thr | |
| ENST00000681837.1:n.1085G>A | ||
| ENST00000681913.1:n.2593G>A | ||
| ENST00000681916.1:c.*237G>A | ENSP00000506477.1:n.*237G>A | |
| ENST00000681930.1:n.2593G>A | ||
| ENST00000370834.9:c.568G>A | ENSP00000359871.5:p.Ala190Thr | |
| ENST00000370841.8:c.469G>A | ENSP00000359878.4:p.Ala157Thr | |
| ENST00000420607.6:c.481G>A | ENSP00000409612.2:p.Ala161Thr | |
| ENST00000525808.5:c.*55G>A | ENSP00000434823.1:n.*55G>A | |
| ENST00000526129.5:c.*253G>A | ENSP00000434092.1:n.*253G>A | |
| ENST00000526196.5:c.*237G>A | ENSP00000431953.1:n.*237G>A | |
| ENST00000526930.1:n.242G>A | ||
| ENST00000529059.5:n.378G>A | ||
| ENST00000530953.6:c.119G>A | ENSP00000431372.1:p.Gly40Asp | |
| ENST00000532509.5:c.*233G>A | ENSP00000432522.1:n.*233G>A | |
| ENST00000534334.5:c.*53G>A | ENSP00000435584.1:n.*53G>A | |
| ENST00000541113.5:c.361G>A | ENSP00000442324.1:p.Ala121Thr | |
| NM_000016.5:c.469G>A | NP_000007.1:p.Ala157Thr | |
| NM_001127328.2:c.481G>A | NP_001120800.1:p.Ala161Thr | |
| NM_001286042.1:c.361G>A | NP_001272971.1:p.Ala121Thr | |
| NM_001286043.1:c.568G>A | NP_001272972.1:p.Ala190Thr | |
| NM_001286044.1:c.-99G>A | NP_001272973.1:n.-99G>A | |
| NM_000016.6:c.469G>A MANE Select | NP_000007.1:p.Ala157Thr | |
| NM_001127328.3:c.481G>A | NP_001120800.1:p.Ala161Thr | |
| NM_001286042.2:c.361G>A | NP_001272971.1:p.Ala121Thr | |
| NM_001286043.2:c.568G>A | NP_001272972.1:p.Ala190Thr | |
| NM_001286044.2:c.-99G>A | NP_001272973.1:n.-99G>A |