Linked Data
ClinVar Variation Id:
2059548
ClinVar RCV Id:
RCV002952858
dbSNP Id:
rs745741032
ExAC:
X:41333757 A / C
gnomAD v2:
X-41333757-A-C
gnomAD v3:
X-41474504-A-C
gnomAD v4:
X-41474504-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474504A>C , CM000685.2:g.41474504A>C | GRCh38 |
| NC_000023.10:g.41333757A>C , CM000685.1:g.41333757A>C | GRCh37 |
| NC_000023.9:g.41218701A>C | NCBI36 |
| NG_009112.1:g.32045A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1036A>C | ENSP00000340328.3:p.Met346Leu | |
| ENST00000378220.3:c.1036A>C MANE Select | ENSP00000367465.2:p.Met346Leu | |
| ENST00000378220.2:c.1051A>C | ENSP00000367465.1:p.Met351Leu | |
| ENST00000342595.2:c.1051A>C | ENSP00000340328.2:p.Met351Leu | |
| ENST00000378220.1:c.1051A>C | ENSP00000367465.1:p.Met351Leu | |
| NM_022567.2:c.1051A>C | NP_072089.1:p.Met351Leu | |
| XM_005272632.2:c.1051A>C | XP_005272689.1:p.Met351Leu | |
| XM_017029709.1:c.1051A>C | XP_016885198.1:p.Met351Leu | |
| NM_001378477.3:c.1036A>C MANE Select | NP_001365406.2:p.Met346Leu | |
| NM_022567.3:c.1036A>C | NP_072089.2:p.Met346Leu |