Linked Data
dbSNP Id:
rs750031541
ExAC:
12:21327534 G / T
gnomAD v2:
12-21327534-G-T
gnomAD v3:
12-21174600-G-T
gnomAD v4:
12-21174600-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174600G>T , CM000674.2:g.21174600G>T | GRCh38 |
| NC_000012.11:g.21327534G>T , CM000674.1:g.21327534G>T | GRCh37 |
| NC_000012.10:g.21218801G>T | NCBI36 |
| NG_011745.1:g.48407G>T , LRG_1022:g.48407G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.250G>T MANE Select | ENSP00000256958.2:p.Val84Leu | |
| ENST00000256958.2:c.250G>T | ENSP00000256958.2:p.Val84Leu | |
| ENST00000543498.5:c.426-2176G>T | ||
| NM_006446.4:c.250G>T , LRG_1022t1:c.250G>T | NP_006437.3:p.Val84Leu | |
| NM_006446.5:c.250G>T MANE Select | NP_006437.3:p.Val84Leu |