dbSNP:
gnomAD v3:
Revel Score:
ENST00000251081
0.236
ENST00000280904 (MANE Select)
0.236
ENST00000438199
0.236
ENST00000399347
0.236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31086683G>T , CM000680.2:g.31086683G>T | GRCh38 |
| NC_000018.9:g.28666646G>T , CM000680.1:g.28666646G>T | GRCh37 |
| NC_000018.8:g.26920644G>T | NCBI36 |
| NG_008208.2:g.20743C>A , LRG_400:g.20743C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.406C>A | ENSP00000507826.1:p.Arg136Ser | |
| ENST00000251081.8:c.835C>A | ENSP00000251081.6:p.Arg279Ser | |
| ENST00000280904.11:c.835C>A MANE Select | ENSP00000280904.6:p.Arg279Ser | |
| ENST00000648081.1:c.406C>A | ENSP00000497441.1:p.Arg136Ser | |
| ENST00000251081.6:c.835C>A | ENSP00000251081.6:p.Arg279Ser | |
| ENST00000280904.10:c.835C>A | ENSP00000280904.6:p.Arg279Ser | |
| NM_004949.4:c.835C>A | NP_004940.1:p.Arg279Ser | |
| NM_024422.4:c.835C>A | NP_077740.1:p.Arg279Ser | |
| XM_005258206.3:c.406C>A | XP_005258263.1:p.Arg136Ser | |
| XM_005258206.4:c.406C>A | XP_005258263.1:p.Arg136Ser | |
| NM_004949.5:c.835C>A | NP_004940.1:p.Arg279Ser | |
| NM_024422.6:c.835C>A MANE Select | NP_077740.1:p.Arg279Ser |