Linked Data
dbSNP Id:
rs782424475
ExAC:
1:147380332 T / A
gnomAD v2:
1-147380332-T-A
gnomAD v3:
1-147908205-T-A
gnomAD v4:
1-147908205-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908205T>A , CM000663.2:g.147908205T>A | GRCh38 |
| NC_000001.10:g.147380332T>A , CM000663.1:g.147380332T>A | GRCh37 |
| NC_000001.9:g.145846956T>A | NCBI36 |
| NG_016242.1:g.10387T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.250T>A MANE Select | ENSP00000358238.1:p.Phe84Ile | |
| ENST00000369235.1:c.250T>A | ENSP00000358238.1:p.Phe84Ile | |
| NM_005267.4:c.250T>A | NP_005258.2:p.Phe84Ile | |
| XM_011509416.1:c.250T>A | XP_011507718.1:p.Phe84Ile | |
| XM_011509417.1:c.250T>A | XP_011507719.1:p.Phe84Ile | |
| XM_011509417.2:c.250T>A | XP_011507719.1:p.Phe84Ile | |
| XR_002956281.1:n.1165T>A | ||
| NM_005267.5:c.250T>A MANE Select | NP_005258.2:p.Phe84Ile |