Linked Data
ClinVar Variation Id:
137615
ClinVar RCV Id:
RCV000125464
dbSNP Id:
rs374385878
ExAC:
8:62415992 G / A
gnomAD v2:
8-62415992-G-A
gnomAD v3:
8-61503433-G-A
gnomAD v4:
8-61503433-G-A
COSMIC:
COSM1100938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61503433G>A , CM000670.2:g.61503433G>A | GRCh38 |
| NC_000008.10:g.62415992G>A , CM000670.1:g.62415992G>A | GRCh37 |
| NC_000008.9:g.62578546G>A | NCBI36 |
| NG_013210.1:g.216208C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379454.9:c.2203C>T MANE Select | ENSP00000368767.4:p.Arg735Trp | |
| ENST00000541428.5:c.2116C>T | ENSP00000437864.1:p.Arg706Trp | |
| ENST00000379454.8:c.2203C>T | ENSP00000368767.4:p.Arg735Trp | |
| ENST00000541428.3:c.2116C>T | ENSP00000437864.1:p.Arg706Trp | |
| NM_001164750.1:c.2116C>T | NP_001158222.1:p.Arg706Trp | |
| NM_004318.3:c.2203C>T | NP_004309.2:p.Arg735Trp | |
| XM_005251235.1:c.2248C>T | XP_005251292.1:p.Arg750Trp | |
| XM_005251236.1:c.2245C>T | XP_005251293.1:p.Arg749Trp | |
| XM_005251238.1:c.2203C>T | XP_005251295.1:p.Arg735Trp | |
| XM_005251239.1:c.2191C>T | XP_005251296.1:p.Arg731Trp | |
| XM_005251240.1:c.2161C>T | XP_005251297.1:p.Arg721Trp | |
| XM_005251241.1:c.2158C>T | XP_005251298.1:p.Arg720Trp | |
| XM_005251242.2:c.2146C>T | XP_005251299.1:p.Arg716Trp | |
| XM_005251243.1:c.2119C>T | XP_005251300.1:p.Arg707Trp | |
| XM_005251244.1:c.2101C>T | XP_005251301.1:p.Arg701Trp | |
| XM_005251246.2:c.2074C>T | XP_005251303.1:p.Arg692Trp | |
| XM_005251247.1:c.2062C>T | XP_005251304.1:p.Arg688Trp | |
| XM_005251248.1:c.2059C>T | XP_005251305.1:p.Arg687Trp | |
| XM_005251249.1:c.2032C>T | XP_005251306.1:p.Arg678Trp | |
| XM_005251250.2:c.2017C>T | XP_005251307.1:p.Arg673Trp | |
| XM_005251235.2:c.2248C>T | XP_005251292.1:p.Arg750Trp | |
| XM_005251236.2:c.2245C>T | XP_005251293.1:p.Arg749Trp | |
| XM_005251239.2:c.2191C>T | XP_005251296.1:p.Arg731Trp | |
| XM_005251242.3:c.2146C>T | XP_005251299.1:p.Arg716Trp | |
| XM_005251243.2:c.2119C>T | XP_005251300.1:p.Arg707Trp | |
| XM_005251246.3:c.2074C>T | XP_005251303.1:p.Arg692Trp | |
| XM_005251247.2:c.2062C>T | XP_005251304.1:p.Arg688Trp | |
| XM_017013419.1:c.2329C>T | XP_016868908.1:p.Arg777Trp | |
| XM_017013420.1:c.2326C>T | XP_016868909.1:p.Arg776Trp | |
| XM_017013421.1:c.2287C>T | XP_016868910.1:p.Arg763Trp | |
| XM_017013422.2:c.2284C>T | XP_016868911.1:p.Arg762Trp | |
| XM_017013424.2:c.2281C>T | XP_016868913.1:p.Arg761Trp | |
| XM_017013425.1:c.2272C>T | XP_016868914.1:p.Arg758Trp | |
| XM_017013426.1:c.2242C>T | XP_016868915.1:p.Arg748Trp | |
| XM_017013427.1:c.2239C>T | XP_016868916.1:p.Arg747Trp | |
| XM_017013428.2:c.2227C>T | XP_016868917.1:p.Arg743Trp | |
| XM_017013429.2:c.2200C>T | XP_016868918.1:p.Arg734Trp | |
| XM_017013430.1:c.2200C>T | XP_016868919.1:p.Arg734Trp | |
| XM_017013431.1:c.2197C>T | XP_016868920.1:p.Arg733Trp | |
| XM_017013432.1:c.2197C>T | XP_016868921.1:p.Arg733Trp | |
| XM_017013433.1:c.2194C>T | XP_016868922.1:p.Arg732Trp | |
| XM_017013434.1:c.2188C>T | XP_016868923.1:p.Arg730Trp | |
| XM_017013435.1:c.2182C>T | XP_016868924.1:p.Arg728Trp | |
| XM_017013437.2:c.2155C>T | XP_016868926.1:p.Arg719Trp | |
| XM_017013438.1:c.2116C>T | XP_016868927.1:p.Arg706Trp | |
| XM_017013439.1:c.2113C>T | XP_016868928.1:p.Arg705Trp | |
| XM_017013440.1:c.2113C>T | XP_016868929.1:p.Arg705Trp | |
| XM_017013444.1:c.1987C>T | XP_016868933.1:p.Arg663Trp | |
| XM_024447155.1:c.2143C>T | XP_024302923.1:p.Arg715Trp | |
| XM_024447156.1:c.2140C>T | XP_024302924.1:p.Arg714Trp | |
| NM_004318.4:c.2203C>T MANE Select | NP_004309.2:p.Arg735Trp | |
| NM_001164750.2:c.2116C>T | NP_001158222.1:p.Arg706Trp |