Linked Data
dbSNP Id:
rs375248069
ExAC:
19:12997873 G / A
gnomAD v2:
19-12997873-G-A
gnomAD v3:
19-12887059-G-A
gnomAD v4:
19-12887059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887059G>A , CM000681.2:g.12887059G>A | GRCh38 |
| NC_000019.9:g.12997873G>A , CM000681.1:g.12997873G>A | GRCh37 |
| NC_000019.8:g.12858873G>A | NCBI36 |
| NG_009292.1:g.900G>A | |
| NG_013087.1:g.5145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.82C>T MANE Select | ENSP00000264834.3:p.Leu28Phe | |
| ENST00000264834.4:c.82C>T | ENSP00000264834.3:p.Leu28Phe | |
| NM_006563.3:c.82C>T | NP_006554.1:p.Leu28Phe | |
| XM_011527642.1:c.-122C>T | XP_011525944.1:n.-122C>T | |
| NM_006563.4:c.82C>T | NP_006554.1:p.Leu28Phe | |
| XM_011527642.2:c.-122C>T | XP_011525944.1:n.-122C>T | |
| NM_006563.5:c.82C>T MANE Select | NP_006554.1:p.Leu28Phe |