Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49061386G>C , CM000681.2:g.49061386G>C | GRCh38 |
| NC_000019.9:g.49564643G>C , CM000681.1:g.49564643G>C | GRCh37 |
| NC_000019.8:g.54256455G>C | NCBI36 |
| NG_016289.1:g.7482C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_006179.4:c.612C>G | NP_006170.1:p.Leu204= | |
| XM_005258962.2:c.612C>G | XP_005259019.1:p.Leu204= | |
| XM_006723232.2:c.612C>G | XP_006723295.1:p.Leu204= | |
| XM_011527008.1:c.642C>G | XP_011525310.1:p.Leu214= | |
| XM_011527009.1:c.612C>G | XP_011525311.1:p.Leu204= | |
| XM_011527010.1:c.612C>G | XP_011525312.1:p.Leu204= | |
| XM_005258962.3:c.612C>G | XP_005259019.1:p.Leu204= | |
| XM_006723232.3:c.612C>G | XP_006723295.1:p.Leu204= | |
| XM_011527008.2:c.642C>G | XP_011525310.1:p.Leu214= | |
| XM_011527009.2:c.612C>G | XP_011525311.1:p.Leu204= | |
| XM_011527010.2:c.612C>G | XP_011525312.1:p.Leu204= | |
| XR_001753693.1:n.657C>G | ||
| XR_001753694.1:n.657C>G | ||
| ENST00000593537.1:n.612C>G | ENSP00000469455.1:p.Leu204= | |
| ENST00000599795.5:c.243+369C>G | ENSP00000470689.1:p.= |