gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127614533G>T , CM000669.2:g.127614533G>T | GRCh38 |
| NC_000007.13:g.127254587G>T , CM000669.1:g.127254587G>T | GRCh37 |
| NC_000007.12:g.127041823G>T | NCBI36 |
| NG_012848.1:g.6194C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.385C>A MANE Select | ENSP00000491782.1:p.Arg129= | |
| ENST00000338516.7:c.385C>A | ENSP00000344297.4:p.Arg129= | |
| ENST00000341640.6:c.361C>A | ENSP00000339906.2:p.Arg121= | |
| ENST00000378740.6:c.361C>A | ENSP00000368014.3:p.Arg121= | |
| ENST00000463946.5:c.355C>A | ENSP00000451923.1:p.Arg119= | |
| ENST00000477423.1:n.355C>A | ||
| ENST00000483494.5:c.355C>A | ENSP00000473846.1:p.Arg119= | |
| ENST00000611453.1:c.355C>A | ENSP00000477877.1:p.Arg119= | |
| NM_006193.2:c.361C>A | NP_006184.2:p.Arg121= | |
| XM_011516276.1:c.385C>A | XP_011514578.1:p.Arg129= | |
| NM_001366110.1:c.385C>A MANE Select | NP_001353039.1:p.Arg129= | |
| NM_001366111.1:c.385C>A | NP_001353040.1:p.Arg129= |