Linked Data
dbSNP Id:
rs1459528631
gnomAD v2:
12-57488413-T-C
gnomAD v3:
12-57094630-T-C
gnomAD v4:
12-57094630-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57094630T>C , CM000674.2:g.57094630T>C | GRCh38 |
| NC_000012.11:g.57488413T>C , CM000674.1:g.57488413T>C | GRCh37 |
| NC_000012.10:g.55774680T>C | NCBI36 |
| NG_021272.1:g.21784A>G | |
| NG_021272.2:g.42510A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300131.8:c.1487T>C MANE Select | ENSP00000300131.3:p.Leu496Pro | |
| ENST00000300131.7:c.1487T>C | ENSP00000300131.3:p.Leu496Pro | |
| ENST00000342556.6:c.1295T>C | ENSP00000341491.6:p.Leu432Pro | |
| NM_005967.3:c.1487T>C | NP_005958.1:p.Leu496Pro | |
| XM_005268894.2:c.1295T>C | XP_005268951.1:p.Leu432Pro | |
| NM_001330305.1:c.1295T>C | NP_001317234.1:p.Leu432Pro | |
| NM_005967.4:c.1487T>C MANE Select | NP_005958.1:p.Leu496Pro | |
| NM_001330305.2:c.1295T>C | NP_001317234.1:p.Leu432Pro |