Linked Data
dbSNP Id:
rs374867946
ExAC:
8:17918902 G / T
gnomAD v2:
8-17918902-G-T
gnomAD v4:
8-18061393-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061393G>T , CM000670.2:g.18061393G>T | GRCh38 |
| NC_000008.10:g.17918902G>T , CM000670.1:g.17918902G>T | GRCh37 |
| NC_000008.9:g.17963182G>T | NCBI36 |
| NG_008985.1:g.28606C>A | |
| NG_008985.2:g.28606C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.817C>A | ENSP00000371152.4:p.Leu273Met | |
| ENST00000517409.2:n.737C>A | ||
| ENST00000518746.2:n.2455C>A | ||
| ENST00000520781.6:c.694C>A | ENSP00000427751.1:p.Leu232Met | |
| ENST00000521542.2:n.77C>A | ||
| ENST00000635756.1:c.182C>A | ||
| ENST00000635944.1:c.*605C>A | ENSP00000490195.1:n.*605C>A | |
| ENST00000635998.1:c.769C>A | ENSP00000490506.1:p.Leu257Met | |
| ENST00000636009.1:c.626C>A | ENSP00000489988.1:n.626C>A | |
| ENST00000636033.1:c.*605C>A | ENSP00000489617.1:n.*605C>A | |
| ENST00000636050.1:c.*612C>A | ENSP00000490562.1:n.*612C>A | |
| ENST00000636128.1:c.448C>A | ENSP00000489789.1:p.Leu150Met | |
| ENST00000636160.1:c.*661C>A | ENSP00000489651.1:n.*661C>A | |
| ENST00000636171.1:c.712C>A | ENSP00000489761.1:p.Leu238Met | |
| ENST00000636455.1:c.817C>A | ENSP00000490502.1:p.Leu273Met | |
| ENST00000636494.1:c.*549C>A | ENSP00000490388.1:n.*549C>A | |
| ENST00000636563.1:n.431C>A | ||
| ENST00000636577.1:c.709C>A | ENSP00000490027.1:p.Leu237Met | |
| ENST00000636691.1:c.574C>A | ENSP00000490725.1:p.Leu192Met | |
| ENST00000636701.1:c.*420C>A | ENSP00000489800.1:n.*420C>A | |
| ENST00000636815.1:c.686C>A | ||
| ENST00000636920.1:c.*605C>A | ENSP00000490437.1:n.*605C>A | |
| ENST00000636997.1:c.682C>A | ENSP00000490093.1:p.Leu228Met | |
| ENST00000637013.1:c.*1137C>A | ENSP00000490596.1:n.*1137C>A | |
| ENST00000637014.1:n.1176C>A | ||
| ENST00000637095.1:c.*549C>A | ENSP00000490415.1:n.*549C>A | |
| ENST00000637244.1:c.*1287C>A | ENSP00000490188.1:n.*1287C>A | |
| ENST00000637343.1:n.2206C>A | ||
| ENST00000637429.1:c.*981C>A | ENSP00000490522.1:n.*981C>A | |
| ENST00000637484.1:c.*731C>A | ENSP00000490837.1:n.*731C>A | |
| ENST00000637528.1:c.706C>A | ENSP00000490801.1:p.Leu236Met | |
| ENST00000637609.1:n.3490C>A | ||
| ENST00000637636.1:c.763C>A | ENSP00000490112.1:p.Leu255Met | |
| ENST00000637790.2:c.769C>A MANE Select | ENSP00000490272.1:p.Leu257Met | |
| ENST00000637857.1:n.1135C>A | ||
| ENST00000637922.1:c.574C>A | ENSP00000490071.1:p.Leu192Met | |
| ENST00000637991.1:c.742C>A | ENSP00000489901.1:p.Leu248Met | |
| ENST00000638028.1:n.986C>A | ||
| ENST00000638069.1:n.1590C>A | ||
| ENST00000262097.10:c.769C>A | ENSP00000262097.6:p.Leu257Met | |
| ENST00000314146.10:c.751C>A | ENSP00000326970.10:p.Leu251Met | |
| ENST00000381733.8:c.817C>A | ENSP00000371152.4:p.Leu273Met | |
| ENST00000519468.5:n.598C>A | ||
| ENST00000520781.5:c.694C>A | ENSP00000427751.1:p.Leu232Met | |
| ENST00000521542.1:n.482C>A | ||
| NM_001127505.1:c.751C>A | NP_001120977.1:p.Leu251Met | |
| NM_001127505.2:c.751C>A | NP_001120977.1:p.Leu251Met | |
| NM_004315.4:c.817C>A | NP_004306.3:p.Leu273Met | |
| NM_004315.5:c.817C>A | NP_004306.3:p.Leu273Met | |
| NM_177924.3:c.769C>A | NP_808592.2:p.Leu257Met | |
| NM_177924.4:c.769C>A | NP_808592.2:p.Leu257Met | |
| XM_005273504.2:c.703C>A | XP_005273561.1:p.Leu235Met | |
| NM_001363743.1:c.574C>A | NP_001350672.1:p.Leu192Met | |
| XM_005273504.3:c.703C>A | XP_005273561.1:p.Leu235Met | |
| NM_177924.5:c.769C>A MANE Select | NP_808592.2:p.Leu257Met | |
| NM_001127505.3:c.751C>A | NP_001120977.1:p.Leu251Met | |
| NM_001363743.2:c.574C>A | NP_001350672.1:p.Leu192Met | |
| NM_004315.6:c.817C>A | NP_004306.3:p.Leu273Met |