Linked Data
ClinVar Variation Id:
167716
dbSNP Id:
rs375371982
ExAC:
14:88897520 A / G
gnomAD v2:
14-88897520-A-G
gnomAD v3:
14-88431176-A-G
gnomAD v4:
14-88431176-A-G
COSMIC:
COSM2250311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88431176A>G , CM000676.2:g.88431176A>G | GRCh38 |
| NC_000014.8:g.88897520A>G , CM000676.1:g.88897520A>G | GRCh37 |
| NC_000014.7:g.87967273A>G | NCBI36 |
| NG_021183.1:g.50533A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1033A>G MANE Select | ENSP00000377176.4:p.Met345Val | |
| ENST00000045347.11:c.1033A>G | ENSP00000045347.7:p.Met345Val | |
| ENST00000356583.9:c.937A>G | ENSP00000348991.5:p.Met313Val | |
| ENST00000393545.8:c.1033A>G | ENSP00000377176.4:p.Met345Val | |
| ENST00000553626.5:n.2812A>G | ||
| ENST00000556406.5:c.6A>G | ||
| ENST00000556553.5:c.937A>G | ENSP00000451128.1:p.Met313Val | |
| ENST00000556666.5:n.1580A>G | ||
| NM_001040428.3:c.937A>G | NP_001035518.1:p.Met313Val | |
| NM_018418.4:c.1033A>G | NP_060888.2:p.Met345Val | |
| XM_005267851.1:c.1036A>G | XP_005267908.1:p.Met346Val | |
| XM_005267852.1:c.940A>G | XP_005267909.1:p.Met314Val | |
| XM_005267854.1:c.844A>G | XP_005267911.1:p.Met282Val | |
| XM_005267855.1:c.844A>G | XP_005267912.1:p.Met282Val | |
| XM_006720204.1:c.1036A>G | XP_006720267.1:p.Met346Val | |
| XM_006720205.1:c.1036A>G | XP_006720268.1:p.Met346Val | |
| XM_011536951.1:c.883A>G | XP_011535253.1:p.Met295Val | |
| XM_011536952.1:c.865A>G | XP_011535254.1:p.Met289Val | |
| XM_011536953.1:c.718A>G | XP_011535255.1:p.Met240Val | |
| XM_005267852.2:c.940A>G | XP_005267909.1:p.Met314Val | |
| XM_017021452.1:c.880A>G | XP_016876941.1:p.Met294Val | |
| XM_017021453.1:c.844A>G | XP_016876942.1:p.Met282Val | |
| XM_017021454.1:c.841A>G | XP_016876943.1:p.Met281Val | |
| XM_017021455.1:c.841A>G | XP_016876944.1:p.Met281Val | |
| XM_017021456.1:c.841A>G | XP_016876945.1:p.Met281Val | |
| XM_017021457.1:c.715A>G | XP_016876946.1:p.Met239Val | |
| XM_024449660.1:c.862A>G | XP_024305428.1:p.Met288Val | |
| XR_002957563.1:n.1104A>G | ||
| NM_018418.5:c.1033A>G MANE Select | NP_060888.2:p.Met345Val | |
| NM_001040428.4:c.937A>G | NP_001035518.1:p.Met313Val |