gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49256801G>A , CM000685.2:g.49256801G>A | GRCh38 |
| NC_000023.10:g.49113258G>A , CM000685.1:g.49113258G>A | GRCh37 |
| NC_000023.9:g.49000202G>A | NCBI36 |
| NG_007392.1:g.13031C>T , LRG_62:g.13031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.492C>T | ENSP00000365372.2:p.Cys164= | |
| ENST00000376207.10:c.597C>T MANE Select | ENSP00000365380.4:p.Cys199= | |
| ENST00000455775.7:c.666C>T | ENSP00000396415.3:p.Cys222= | |
| ENST00000518685.6:c.597C>T | ENSP00000428952.2:p.Cys199= | |
| ENST00000557224.6:c.492C>T | ENSP00000451208.1:p.Cys164= | |
| ENST00000651307.1:c.597C>T | ENSP00000498454.1:p.Cys199= | |
| ENST00000652559.1:c.450C>T | ENSP00000498236.1:p.Cys150= | |
| ENST00000376197.1:c.447C>T | ENSP00000365369.1:p.Cys149= | |
| ENST00000376199.6:c.492C>T | ENSP00000365372.2:p.Cys164= | |
| ENST00000376207.8:c.597C>T | ENSP00000365380.4:p.Cys199= | |
| ENST00000455775.6:c.666C>T | ENSP00000396415.3:p.Cys222= | |
| ENST00000518685.5:c.492C>T | ENSP00000428952.1:p.Cys164= | |
| ENST00000557224.5:c.492C>T | ENSP00000451208.1:p.Cys164= | |
| NM_001114377.1:c.492C>T | NP_001107849.1:p.Cys164= | |
| NM_014009.3:c.597C>T , LRG_62t1:c.597C>T | NP_054728.2:p.Cys199= | |
| XM_006724533.2:c.666C>T | XP_006724596.2:p.Cys222= | |
| XM_011543915.1:c.816C>T | XP_011542217.1:p.Cys272= | |
| XM_011543916.1:c.816C>T | XP_011542218.1:p.Cys272= | |
| XM_011543917.1:c.615C>T | XP_011542219.1:p.Cys205= | |
| XM_011543918.1:c.852C>T | XP_011542220.1:p.Cys284= | |
| XM_011543919.1:c.816C>T | XP_011542221.1:p.Cys272= | |
| XM_017029567.1:c.543C>T | XP_016885056.1:p.Cys181= | |
| NM_001114377.2:c.492C>T | NP_001107849.1:p.Cys164= | |
| NM_014009.4:c.597C>T MANE Select | NP_054728.2:p.Cys199= |