Linked Data
dbSNP Id:
rs201263330
ExAC:
15:67482818 G / T
gnomAD v2:
15-67482818-G-T
gnomAD v4:
15-67190480-G-T
COSMIC:
COSM6023586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67190480G>T , CM000677.2:g.67190480G>T | GRCh38 |
| NC_000015.9:g.67482818G>T , CM000677.1:g.67482818G>T | GRCh37 |
| NC_000015.8:g.65269872G>T | NCBI36 |
| NG_011990.1:g.129624G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558428.6:c.637G>T | ENSP00000454165.2:p.Asp213Tyr | |
| ENST00000558739.2:c.907G>T | ENSP00000453684.2:p.Asp303Tyr | |
| ENST00000558827.2:c.637G>T | ENSP00000452767.2:p.Asp213Tyr | |
| ENST00000559460.6:c.907G>T | ENSP00000453082.2:p.Asp303Tyr | |
| ENST00000560424.2:c.1333G>T | ENSP00000455540.2:p.Asp445Tyr | |
| ENST00000327367.9:c.1222G>T MANE Select | ENSP00000332973.4:p.Asp408Tyr | |
| ENST00000679624.1:c.907G>T | ENSP00000505445.1:p.Asp303Tyr | |
| ENST00000680689.1:n.925G>T | ||
| ENST00000681239.1:c.907G>T | ENSP00000505641.1:p.Asp303Tyr | |
| ENST00000327367.8:c.1222G>T | ENSP00000332973.4:p.Asp408Tyr | |
| ENST00000439724.7:c.1090G>T | ENSP00000401133.3:p.Asp364Tyr | |
| ENST00000537194.6:c.637G>T | ENSP00000445348.2:p.Asp213Tyr | |
| ENST00000540846.6:c.907G>T | ENSP00000437757.2:p.Asp303Tyr | |
| ENST00000558763.1:n.916G>T | ||
| ENST00000560402.1:n.283-2393G>T | ||
| ENST00000560424.1:c.414G>T | ||
| NM_001145102.1:c.907G>T | NP_001138574.1:p.Asp303Tyr | |
| NM_001145103.1:c.1090G>T | NP_001138575.1:p.Asp364Tyr | |
| NM_001145104.1:c.637G>T | NP_001138576.1:p.Asp213Tyr | |
| NM_005902.3:c.1222G>T | NP_005893.1:p.Asp408Tyr | |
| XM_011521559.1:c.1090G>T | XP_011519861.1:p.Asp364Tyr | |
| XM_011521560.1:c.1075G>T | XP_011519862.1:p.Asp359Tyr | |
| XM_011521559.3:c.1090G>T | XP_011519861.1:p.Asp364Tyr | |
| NM_005902.4:c.1222G>T MANE Select | NP_005893.1:p.Asp408Tyr | |
| NM_001145102.2:c.907G>T | NP_001138574.1:p.Asp303Tyr | |
| NM_001145103.2:c.1090G>T | NP_001138575.1:p.Asp364Tyr | |
| NM_001145104.2:c.637G>T | NP_001138576.1:p.Asp213Tyr |