Linked Data
dbSNP Id:
rs746827242
ExAC:
15:38643658 G / T
gnomAD v2:
15-38643658-G-T
gnomAD v4:
15-38351457-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351457G>T , CM000677.2:g.38351457G>T | GRCh38 |
| NC_000015.9:g.38643658G>T , CM000677.1:g.38643658G>T | GRCh37 |
| NC_000015.8:g.36430950G>T | NCBI36 |
| NG_008980.1:g.103607G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1128G>T MANE Select | ENSP00000299084.4:p.Leu376Phe | |
| ENST00000299084.8:c.1128G>T | ENSP00000299084.4:p.Leu376Phe | |
| NM_152594.2:c.1128G>T | NP_689807.1:p.Leu376Phe | |
| XM_005254202.2:c.1164G>T | XP_005254259.1:p.Leu388Phe | |
| XM_005254203.3:c.906G>T | XP_005254260.1:p.Leu302Phe | |
| XM_011521288.1:c.1065G>T | XP_011519590.1:p.Leu355Phe | |
| XM_011521289.1:c.1065G>T | XP_011519591.1:p.Leu355Phe | |
| XM_011521290.1:c.1065G>T | XP_011519592.1:p.Leu355Phe | |
| XM_005254202.3:c.1164G>T | XP_005254259.1:p.Leu388Phe | |
| XM_011521289.3:c.1065G>T | XP_011519591.1:p.Leu355Phe | |
| NM_152594.3:c.1128G>T MANE Select | NP_689807.1:p.Leu376Phe |