Linked Data
dbSNP Id:
rs1386305597
gnomAD v2:
X-22094583-A-C
gnomAD v3:
X-22076465-A-C
gnomAD v4:
X-22076465-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22076465A>C , CM000685.2:g.22076465A>C | GRCh38 |
| NC_000023.10:g.22094583A>C , CM000685.1:g.22094583A>C | GRCh37 |
| NC_000023.9:g.22004504A>C | NCBI36 |
| NG_007563.2:g.48663A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.853A>C | ||
| ENST00000683214.1:n.545-1011A>C | ||
| ENST00000684143.1:c.427A>C | ENSP00000508264.1:p.Met143Leu | |
| ENST00000684745.1:n.104A>C | ||
| ENST00000379374.5:c.427A>C MANE Select | ENSP00000368682.4:p.Met143Leu | |
| ENST00000379374.4:c.427A>C | ENSP00000368682.4:p.Met143Leu | |
| NM_000444.5:c.427A>C | NP_000435.3:p.Met143Leu | |
| NM_001282754.1:c.427A>C | NP_001269683.1:p.Met143Leu | |
| XM_011545535.1:c.427A>C | XP_011543837.1:p.Met143Leu | |
| XM_017029579.1:c.-93-13964A>C | XP_016885068.1:n.-93-13964A>C | |
| XM_024452390.1:c.136A>C | XP_024308158.1:p.Met46Leu | |
| XR_001755695.1:n.1106A>C | ||
| NM_000444.6:c.427A>C MANE Select | NP_000435.3:p.Met143Leu | |
| NM_001282754.2:c.427A>C | NP_001269683.1:p.Met143Leu |