Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37568581G>T , CM000684.2:g.37568581G>T | GRCh38 |
| NC_000022.10:g.37964588G>T , CM000684.1:g.37964588G>T | GRCh37 |
| NC_000022.9:g.36294534G>T | NCBI36 |
| NG_012096.1:g.16437C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152243.3:c.937G>T MANE Select | NP_689449.1:p.Ala313Ser |
| ENST00000249014.5:c.937G>T MANE Select | ENSP00000249014.4:p.Ala313Ser |
| NM_152243.2:c.937G>T | NP_689449.1:p.Ala313Ser |
| ENST00000249014.4:c.937G>T | ENSP00000249014.4:p.Ala313Ser |
| XM_006724107.1:c.937G>T | XP_006724170.1:p.Ala313Ser |
| XM_006724107.2:c.937G>T | XP_006724170.1:p.Ala313Ser |
| XM_006724108.1:c.937G>T | XP_006724171.1:p.Ala313Ser |
| XM_006724109.1:c.937G>T | XP_006724172.1:p.Ala313Ser |
| XM_017028541.1:c.937G>T | XP_016884030.1:p.Ala313Ser |