Linked Data
ClinVar Variation Id:
161781
ClinVar RCV Id:
RCV000149317
dbSNP Id:
rs193921025
COSMIC:
COSM255000
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21729761T>C , CM000663.2:g.21729761T>C | GRCh38 |
| NC_000001.10:g.22056254T>C , CM000663.1:g.22056254T>C | GRCh37 |
| NC_000001.9:g.21928841T>C | NCBI36 |
| NG_047203.1:g.58439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308271.14:c.1243A>G MANE Select | ENSP00000309262.9:p.Met415Val | |
| ENST00000308271.13:c.1243A>G | ENSP00000309262.9:p.Met415Val | |
| ENST00000374730.2:c.405A>G | ||
| ENST00000400301.5:c.1243A>G | ENSP00000383157.1:p.Met415Val | |
| ENST00000421625.6:c.1243A>G | ENSP00000406256.2:p.Met415Val | |
| ENST00000526044.5:c.1A>G | ENSP00000431832.1:p.Met1Val | |
| ENST00000529637.5:c.1240A>G | ENSP00000431949.1:p.Met414Val | |
| ENST00000534705.5:c.109A>G | ENSP00000435604.1:p.Met37Val | |
| NM_001032730.1:c.1243A>G | NP_001027902.1:p.Met415Val | |
| NM_032236.5:c.1243A>G | NP_115612.4:p.Met415Val | |
| XM_005246009.2:c.1243A>G | XP_005246066.1:p.Met415Val | |
| XM_006710951.2:c.1240A>G | XP_006711014.2:p.Met414Val | |
| XM_006710955.2:c.1243A>G | XP_006711018.1:p.Met415Val | |
| XM_011542262.1:c.1240A>G | XP_011540564.1:p.Met414Val | |
| XM_011542263.1:c.1243A>G | XP_011540565.1:p.Met415Val | |
| XM_011542264.1:c.1042A>G | XP_011540566.1:p.Met348Val | |
| XM_011542265.1:c.862A>G | XP_011540567.1:p.Met288Val | |
| XM_011542266.1:c.1243A>G | XP_011540568.1:p.Met415Val | |
| XM_011542267.1:c.1A>G | XP_011540569.1:p.Met1Val | |
| XM_011542268.1:c.1A>G | XP_011540570.1:p.Met1Val | |
| NM_001032730.2:c.1243A>G | NP_001027902.1:p.Met415Val | |
| NM_001330394.2:c.1243A>G | NP_001317323.1:p.Met415Val | |
| NM_001350164.1:c.1240A>G | NP_001337093.1:p.Met414Val | |
| NM_001350166.1:c.1240A>G | NP_001337095.1:p.Met414Val | |
| NM_001350167.1:c.1240A>G | NP_001337096.1:p.Met414Val | |
| NM_001350168.1:c.1243A>G | NP_001337097.1:p.Met415Val | |
| NM_032236.7:c.1243A>G | NP_115612.4:p.Met415Val | |
| XM_006710955.4:c.1243A>G | XP_006711018.1:p.Met415Val | |
| XM_011542265.3:c.862A>G | XP_011540567.1:p.Met288Val | |
| XM_011542267.3:c.1A>G | XP_011540569.1:p.Met1Val | |
| XM_011542268.2:c.1A>G | XP_011540570.1:p.Met1Val | |
| XM_017002496.2:c.1243A>G | XP_016857985.1:p.Met415Val | |
| XM_017002497.1:c.1A>G | XP_016857986.1:p.Met1Val | |
| XM_024450167.1:c.1A>G | XP_024305935.1:p.Met1Val | |
| XR_001737479.2:n.1461A>G | ||
| XR_001737480.2:n.1461A>G | ||
| XR_001737482.2:n.1461A>G | ||
| XR_002957781.1:n.1461A>G | ||
| NM_001350164.2:c.1240A>G | NP_001337093.1:p.Met414Val | |
| NM_001350166.2:c.1240A>G | NP_001337095.1:p.Met414Val | |
| NM_001350167.2:c.1240A>G | NP_001337096.1:p.Met414Val | |
| NM_001350168.2:c.1243A>G | NP_001337097.1:p.Met415Val | |
| NM_032236.8:c.1243A>G MANE Select | NP_115612.4:p.Met415Val | |
| NM_001032730.3:c.1243A>G | NP_001027902.1:p.Met415Val | |
| NM_001330394.3:c.1243A>G | NP_001317323.1:p.Met415Val |