dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110800821G>C , CM000671.2:g.110800821G>C | GRCh38 |
| NC_000009.11:g.113563101G>C , CM000671.1:g.113563101G>C | GRCh37 |
| NC_000009.10:g.112602922G>C | NCBI36 |
| NG_016016.1:g.137051G>C | |
| NG_016016.2:g.137031G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.2443G>C MANE Select | ENSP00000363571.4:p.Val815Leu | |
| ENST00000189978.10:c.2185G>C | ENSP00000189978.6:p.Val729Leu | |
| ENST00000374440.7:c.2185G>C | ENSP00000363563.4:p.Val729Leu | |
| ENST00000374448.8:c.2443G>C | ENSP00000363571.4:p.Val815Leu | |
| ENST00000416899.7:c.2419G>C | ENSP00000393608.3:p.Val807Leu | |
| NM_001166280.1:c.2185G>C | NP_001159752.1:p.Val729Leu | |
| NM_001166281.1:c.2155G>C | NP_001159753.1:p.Val719Leu | |
| NM_005592.3:c.2443G>C | NP_005583.1:p.Val815Leu | |
| XM_005251994.2:c.2473G>C | XP_005252051.1:p.Val825Leu | |
| XM_005251995.2:c.2449G>C | XP_005252052.1:p.Val817Leu | |
| XM_005251996.2:c.2419G>C | XP_005252053.1:p.Val807Leu | |
| XM_011518707.1:c.2503G>C | XP_011517009.1:p.Val835Leu | |
| XM_011518708.1:c.1207G>C | XP_011517010.1:p.Val403Leu | |
| XM_005251994.3:c.2473G>C | XP_005252051.1:p.Val825Leu | |
| XM_005251995.3:c.2449G>C | XP_005252052.1:p.Val817Leu | |
| XM_005251996.3:c.2419G>C | XP_005252053.1:p.Val807Leu | |
| XM_011518708.2:c.1207G>C | XP_011517010.1:p.Val403Leu | |
| XM_017014734.1:c.2209G>C | XP_016870223.1:p.Val737Leu | |
| NM_001166280.2:c.2185G>C | NP_001159752.1:p.Val729Leu | |
| NM_001166281.2:c.2155G>C | NP_001159753.1:p.Val719Leu | |
| NM_001369398.1:c.1183G>C | NP_001356327.1:p.Val395Leu | |
| NM_005592.4:c.2443G>C MANE Select | NP_005583.1:p.Val815Leu |