gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112150193T>A , CM000673.2:g.112150193T>A | GRCh38 |
| NC_000011.9:g.112020916T>A , CM000673.1:g.112020916T>A | GRCh37 |
| NC_000011.8:g.111526126T>A | NCBI36 |
| NG_028143.1:g.18925A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280357.12:c.105A>T MANE Select | ENSP00000280357.7:p.Ser35= | |
| ENST00000280357.11:c.105A>T | ENSP00000280357.7:p.Ser35= | |
| ENST00000524595.5:c.93A>T | ENSP00000434561.1:p.Ser31= | |
| ENST00000525547.5:n.881A>T | ||
| ENST00000525987.5:n.320-20226T>A | ||
| ENST00000528832.1:c.105A>T | ENSP00000434161.1:p.Ser35= | |
| ENST00000531744.5:c.315-20226T>A | ENSP00000456957.1:n.315-20226T>A | |
| ENST00000532699.1:c.315-20226T>A | ENSP00000456434.1:n.315-20226T>A | |
| ENST00000533858.5:n.368A>T | ||
| NM_001243211.1:c.93A>T | NP_001230140.1:p.Ser31= | |
| NM_001562.3:c.105A>T | NP_001553.1:p.Ser35= | |
| XM_011542805.1:c.93A>T | XP_011541107.1:p.Ser31= | |
| XM_011542806.1:c.105A>T | XP_011541108.1:p.Ser35= | |
| XM_011542806.2:c.105A>T | XP_011541108.1:p.Ser35= | |
| NM_001562.4:c.105A>T MANE Select | NP_001553.1:p.Ser35= | |
| NM_001243211.2:c.93A>T | NP_001230140.1:p.Ser31= | |
| NM_001386420.1:c.105A>T | NP_001373349.1:p.Ser35= |