Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.93673121T>C , CM000685.2:g.93673121T>C | GRCh38 |
| NC_000023.10:g.92928120T>C , CM000685.1:g.92928120T>C | GRCh37 |
| NC_000023.9:g.92814776T>C | NCBI36 |
| NG_013275.1:g.5489A>G | |
| NG_016400.1:g.4109T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004538.6:c.184A>G MANE Select | NP_004529.2:p.Ser62Gly |
| ENST00000373079.4:c.184A>G MANE Select | ENSP00000362171.3:p.Ser62Gly |
| NM_004538.5:c.184A>G | NP_004529.2:p.Ser62Gly |
| ENST00000373079.3:c.184A>G | ENSP00000362171.3:p.Ser62Gly |
| ENST00000475430.2:c.163A>G | ENSP00000476891.1:p.Ser55Gly |