Linked Data
dbSNP Id:
rs782697859
ExAC:
X:148564557 C / A
gnomAD v2:
X-148564557-C-A
gnomAD v4:
X-149483026-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483026C>A , CM000685.2:g.149483026C>A | GRCh38 |
| NC_000023.10:g.148564557C>A , CM000685.1:g.148564557C>A | GRCh37 |
| NC_000023.9:g.148372462C>A | NCBI36 |
| NG_011900.3:g.27309G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1373G>T MANE Select | ENSP00000339801.6:p.Arg458Leu | |
| ENST00000651111.1:c.740G>T | ENSP00000498395.1:p.Arg247Leu | |
| ENST00000340855.10:c.1373G>T | ENSP00000339801.6:p.Arg458Leu | |
| ENST00000422081.6:c.740G>T | ENSP00000477056.1:p.Arg247Leu | |
| NM_000202.6:c.1373G>T | NP_000193.1:p.Arg458Leu | |
| NM_001166550.2:c.1103G>T | NP_001160022.1:p.Arg368Leu | |
| NM_000202.7:c.1373G>T | NP_000193.1:p.Arg458Leu | |
| NM_001166550.3:c.1103G>T | NP_001160022.1:p.Arg368Leu | |
| NM_000202.8:c.1373G>T MANE Select | NP_000193.1:p.Arg458Leu | |
| NM_001166550.4:c.1103G>T | NP_001160022.1:p.Arg368Leu |