Linked Data
dbSNP Id:
rs202148801
ExAC:
1:207785099 G / C
gnomAD v2:
1-207785099-G-C
gnomAD v3:
1-207611754-G-C
gnomAD v4:
1-207611754-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207611754G>C , CM000663.2:g.207611754G>C | GRCh38 |
| NC_000001.10:g.207785099G>C , CM000663.1:g.207785099G>C | GRCh37 |
| NC_000001.9:g.205851722G>C | NCBI36 |
| NG_007481.1:g.120627G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.6373G>C MANE Select | ENSP00000356016.4:p.Val2125Leu | |
| ENST00000367051.6:c.5023G>C | ENSP00000356018.1:p.Val1675Leu | |
| ENST00000367052.6:c.5023G>C | ENSP00000356019.1:p.Val1675Leu | |
| ENST00000367053.6:c.5023G>C | ENSP00000356020.1:p.Val1675Leu | |
| ENST00000400960.7:c.5023G>C | ENSP00000383744.2:p.Val1675Leu | |
| ENST00000367049.8:c.6373G>C | ENSP00000356016.4:p.Val2125Leu | |
| ENST00000367051.5:c.5023G>C | ENSP00000356018.1:p.Val1675Leu | |
| ENST00000367052.5:c.5023G>C | ENSP00000356019.1:p.Val1675Leu | |
| ENST00000367053.5:c.5023G>C | ENSP00000356020.1:p.Val1675Leu | |
| ENST00000400960.6:c.5023G>C | ENSP00000383744.2:p.Val1675Leu | |
| ENST00000529814.1:c.1180-4821G>C | ||
| NM_000573.3:c.5023G>C | NP_000564.2:p.Val1675Leu | |
| NM_000651.4:c.6373G>C | NP_000642.3:p.Val2125Leu | |
| XM_006711166.2:c.6388G>C | XP_006711229.1:p.Val2130Leu | |
| XM_011509205.1:c.6388G>C | XP_011507507.1:p.Val2130Leu | |
| NM_000651.5:c.6373G>C | NP_000642.3:p.Val2125Leu | |
| XM_024453287.1:c.5038G>C | XP_024309055.1:p.Val1680Leu | |
| NM_000573.4:c.5023G>C | NP_000564.2:p.Val1675Leu | |
| NM_000651.6:c.6373G>C MANE Select | NP_000642.3:p.Val2125Leu |