Linked Data
dbSNP Id:
rs1301440477
gnomAD v2:
1-76205696-C-T
gnomAD v3:
1-75740011-C-T
gnomAD v4:
1-75740011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740011C>T , CM000663.2:g.75740011C>T | GRCh38 |
| NC_000001.10:g.76205696C>T , CM000663.1:g.76205696C>T | GRCh37 |
| NC_000001.9:g.75978284C>T | NCBI36 |
| NG_007045.2:g.20654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.500C>T MANE Select | ENSP00000359878.5:p.Ser167Phe | |
| ENST00000473018.3:n.2624C>T | ||
| ENST00000541113.6:c.500C>T | ENSP00000442324.2:p.Ser167Phe | |
| ENST00000679509.1:n.1462C>T | ||
| ENST00000679530.1:c.*268C>T | ENSP00000506454.1:n.*268C>T | |
| ENST00000679615.1:n.2624C>T | ||
| ENST00000679687.1:c.62C>T | ENSP00000506598.1:p.Ser21Phe | |
| ENST00000679704.1:c.*266C>T | ENSP00000505117.1:n.*266C>T | |
| ENST00000679709.1:c.*463C>T | ENSP00000506623.1:n.*463C>T | |
| ENST00000679804.1:n.239C>T | ||
| ENST00000679976.1:c.*84C>T | ENSP00000505565.1:n.*84C>T | |
| ENST00000680166.1:n.3789C>T | ||
| ENST00000680517.1:c.318C>T | ENSP00000505803.1:p.Leu106= | |
| ENST00000680582.1:n.1462C>T | ||
| ENST00000680613.1:c.500C>T | ENSP00000506114.1:p.Ser167Phe | |
| ENST00000680662.1:c.*414C>T | ENSP00000505080.1:n.*414C>T | |
| ENST00000680691.1:c.*163C>T | ENSP00000506487.1:n.*163C>T | |
| ENST00000680694.1:c.*88C>T | ENSP00000505658.1:n.*88C>T | |
| ENST00000680743.1:c.*167C>T | ENSP00000505073.1:n.*167C>T | |
| ENST00000680749.1:c.500C>T | ENSP00000505122.1:p.Ser167Phe | |
| ENST00000680798.1:c.*84C>T | ENSP00000505670.1:n.*84C>T | |
| ENST00000680805.1:c.500C>T | ENSP00000505447.1:p.Ser167Phe | |
| ENST00000680844.1:c.*284C>T | ENSP00000506541.1:n.*284C>T | |
| ENST00000680948.1:c.*367C>T | ENSP00000505441.1:n.*367C>T | |
| ENST00000680964.1:c.500C>T | ENSP00000505961.1:p.Ser167Phe | |
| ENST00000681037.1:c.500C>T | ENSP00000506025.1:p.Ser167Phe | |
| ENST00000681063.1:c.500C>T | ENSP00000506616.1:p.Ser167Phe | |
| ENST00000681209.1:c.*264C>T | ENSP00000505877.1:n.*264C>T | |
| ENST00000681278.1:n.857C>T | ||
| ENST00000681289.1:n.857C>T | ||
| ENST00000681361.1:c.*167C>T | ENSP00000506679.1:n.*167C>T | |
| ENST00000681430.1:c.500C>T | ENSP00000506301.1:p.Ser167Phe | |
| ENST00000681446.1:c.*82C>T | ENSP00000506244.1:n.*82C>T | |
| ENST00000681450.1:c.*171C>T | ENSP00000505660.1:n.*171C>T | |
| ENST00000681548.1:c.*86C>T | ENSP00000505275.1:n.*86C>T | |
| ENST00000681616.1:c.*268C>T | ENSP00000505111.1:n.*268C>T | |
| ENST00000681621.1:c.*84C>T | ENSP00000505770.1:n.*84C>T | |
| ENST00000681680.1:n.2624C>T | ||
| ENST00000681720.1:c.*55-5795C>T | ENSP00000505438.1:n.*55-5795C>T | |
| ENST00000681730.1:n.722C>T | ||
| ENST00000681790.1:c.242C>T | ENSP00000505130.1:p.Ser81Phe | |
| ENST00000681837.1:n.1116C>T | ||
| ENST00000681913.1:n.2624C>T | ||
| ENST00000681916.1:c.*268C>T | ENSP00000506477.1:n.*268C>T | |
| ENST00000681930.1:n.2624C>T | ||
| ENST00000370834.9:c.599C>T | ENSP00000359871.5:p.Ser200Phe | |
| ENST00000370841.8:c.500C>T | ENSP00000359878.4:p.Ser167Phe | |
| ENST00000420607.6:c.512C>T | ENSP00000409612.2:p.Ser171Phe | |
| ENST00000525808.5:c.*86C>T | ENSP00000434823.1:n.*86C>T | |
| ENST00000526129.5:c.*284C>T | ENSP00000434092.1:n.*284C>T | |
| ENST00000526196.5:c.*268C>T | ENSP00000431953.1:n.*268C>T | |
| ENST00000526930.1:n.273C>T | ||
| ENST00000529059.5:n.409C>T | ||
| ENST00000530953.6:c.150C>T | ENSP00000431372.1:p.Leu50= | |
| ENST00000532509.5:c.*264C>T | ENSP00000432522.1:n.*264C>T | |
| ENST00000534334.5:c.*84C>T | ENSP00000435584.1:n.*84C>T | |
| ENST00000541113.5:c.392C>T | ENSP00000442324.1:p.Ser131Phe | |
| NM_000016.5:c.500C>T | NP_000007.1:p.Ser167Phe | |
| NM_001127328.2:c.512C>T | NP_001120800.1:p.Ser171Phe | |
| NM_001286042.1:c.392C>T | NP_001272971.1:p.Ser131Phe | |
| NM_001286043.1:c.599C>T | NP_001272972.1:p.Ser200Phe | |
| NM_001286044.1:c.-68C>T | NP_001272973.1:n.-68C>T | |
| NM_000016.6:c.500C>T MANE Select | NP_000007.1:p.Ser167Phe | |
| NM_001127328.3:c.512C>T | NP_001120800.1:p.Ser171Phe | |
| NM_001286042.2:c.392C>T | NP_001272971.1:p.Ser131Phe | |
| NM_001286043.2:c.599C>T | NP_001272972.1:p.Ser200Phe | |
| NM_001286044.2:c.-68C>T | NP_001272973.1:n.-68C>T |