Linked Data
dbSNP Id:
rs1320752706
gnomAD v2:
14-77767530-A-G
gnomAD v4:
14-77301187-A-G
COSMIC:
COSM1477801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77301187A>G , CM000676.2:g.77301187A>G | GRCh38 |
| NC_000014.8:g.77767530A>G , CM000676.1:g.77767530A>G | GRCh37 |
| NC_000014.7:g.76837283A>G | NCBI36 |
| NG_008897.1:g.24696T>C , LRG_844:g.24696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.172T>C | ENSP00000508202.1:n.172T>C | |
| ENST00000556394.2:c.358-1626T>C | ENSP00000451967.2:n.358-1626T>C | |
| ENST00000556880.6:n.743T>C | ||
| ENST00000557289.2:c.63T>C | ||
| ENST00000682247.1:c.719T>C | ENSP00000507213.1:p.Leu240Ser | |
| ENST00000682382.1:c.496-2416T>C | ||
| ENST00000682395.1:n.448T>C | ||
| ENST00000682459.1:n.383T>C | ||
| ENST00000682467.1:c.719T>C | ENSP00000508062.1:p.Leu240Ser | |
| ENST00000682795.1:c.719T>C | ENSP00000507574.1:p.Leu240Ser | |
| ENST00000682895.1:n.435T>C | ||
| ENST00000682955.1:n.212-2416T>C | ||
| ENST00000683167.1:c.63T>C | ||
| ENST00000683188.1:c.343-1626T>C | ||
| ENST00000683300.1:c.109+3505T>C | ENSP00000507630.1:n.109+3505T>C | |
| ENST00000683328.1:c.109+3505T>C | ENSP00000508096.1:n.109+3505T>C | |
| ENST00000683380.1:n.383T>C | ||
| ENST00000683398.1:c.63T>C | ||
| ENST00000683551.1:c.109+1648T>C | ||
| ENST00000683828.1:c.526-1626T>C | ||
| ENST00000684259.1:n.570T>C | ||
| ENST00000684549.1:n.368-1626T>C | ||
| ENST00000684554.1:c.63T>C | ||
| ENST00000261534.9:c.719T>C MANE Select | ENSP00000261534.4:p.Leu240Ser | |
| ENST00000261534.8:c.719T>C | ENSP00000261534.4:p.Leu240Ser | |
| ENST00000452340.7:n.742T>C | ||
| ENST00000553863.5:n.383T>C | ||
| ENST00000555675.5:n.435T>C | ||
| ENST00000556326.5:c.*385T>C | ENSP00000450630.1:n.*385T>C | |
| ENST00000557289.1:c.56-1626T>C | ENSP00000451115.1:n.56-1626T>C | |
| NM_013382.5:c.719T>C , LRG_844t1:c.719T>C | NP_037514.2:p.Leu240Ser | |
| XM_011536675.1:c.719T>C | XP_011534977.1:p.Leu240Ser | |
| XM_011536676.1:c.386T>C | XP_011534978.1:p.Leu129Ser | |
| XM_011536677.1:c.547+3505T>C | XP_011534979.1:n.547+3505T>C | |
| XM_011536678.1:c.719T>C | XP_011534980.1:p.Leu240Ser | |
| XM_011536679.1:c.-90-1626T>C | XP_011534981.1:n.-90-1626T>C | |
| XM_011536680.1:c.719T>C | XP_011534982.1:p.Leu240Ser | |
| XR_943416.1:n.922T>C | ||
| XM_011536675.2:c.719T>C | XP_011534977.1:p.Leu240Ser | |
| XM_011536676.2:c.386T>C | XP_011534978.1:p.Leu129Ser | |
| XM_011536677.3:c.547+3505T>C | XP_011534979.1:n.547+3505T>C | |
| XR_001750279.1:n.919T>C | ||
| XR_001750282.1:n.923T>C | ||
| XR_943416.3:n.920T>C | ||
| NM_013382.6:c.719T>C | NP_037514.2:p.Leu240Ser | |
| NM_013382.7:c.719T>C MANE Select | NP_037514.2:p.Leu240Ser |