Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48758034G>T , CM000681.2:g.48758034G>T | GRCh38 |
| NC_000019.9:g.49261291G>T , CM000681.1:g.49261291G>T | GRCh37 |
| NC_000019.8:g.53953103G>T | NCBI36 |
| NG_007510.1:g.2357C>A | |
| NG_033945.1:g.6948G>T | |
| NG_007510.2:g.2357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222157.5:c.444G>T | ENSP00000222157.3:p.Gly148= | |
| ENST00000593756.6:c.444G>T MANE Select | ENSP00000471477.1:p.Gly148= | |
| ENST00000222157.4:c.444G>T | ENSP00000222157.3:p.Gly148= | |
| ENST00000593756.5:c.444G>T | ENSP00000471477.1:p.Gly148= | |
| NM_019113.2:c.444G>T | NP_061986.1:p.Gly148= | |
| XM_005258731.1:c.444G>T | XP_005258788.1:p.Gly148= | |
| NM_019113.3:c.444G>T | NP_061986.1:p.Gly148= | |
| NM_019113.4:c.444G>T MANE Select | NP_061986.1:p.Gly148= |