Linked Data
dbSNP Id:
rs145255620
gnomAD v2:
13-33629317-G-T
gnomAD v3:
13-33055180-G-T
gnomAD v4:
13-33055180-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055180G>T , CM000675.2:g.33055180G>T | GRCh38 |
| NC_000013.10:g.33629317G>T , CM000675.1:g.33629317G>T | GRCh37 |
| NC_000013.9:g.32527317G>T | NCBI36 |
| NG_011485.1:g.43747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1464G>T MANE Select | ENSP00000369442.3:p.Leu488Phe | |
| ENST00000380099.3:c.1464G>T | ENSP00000369442.3:p.Leu488Phe | |
| ENST00000487852.1:n.1472G>T | ||
| NM_004795.3:c.1464G>T | NP_004786.2:p.Leu488Phe | |
| XM_006719895.1:c.543G>T | XP_006719958.1:p.Leu181Phe | |
| XM_006719895.2:c.543G>T | XP_006719958.1:p.Leu181Phe | |
| NM_004795.4:c.1464G>T MANE Select | NP_004786.2:p.Leu488Phe |