Linked Data
dbSNP Id:
rs752815808
ExAC:
X:41333847 T / C
gnomAD v2:
X-41333847-T-C
gnomAD v4:
X-41474594-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474594T>C , CM000685.2:g.41474594T>C | GRCh38 |
| NC_000023.10:g.41333847T>C , CM000685.1:g.41333847T>C | GRCh37 |
| NC_000023.9:g.41218791T>C | NCBI36 |
| NG_009112.1:g.32135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1126T>C | ENSP00000340328.3:p.Ser376Pro | |
| ENST00000378220.3:c.1126T>C MANE Select | ENSP00000367465.2:p.Ser376Pro | |
| ENST00000378220.2:c.1141T>C | ENSP00000367465.1:p.Ser381Pro | |
| ENST00000342595.2:c.1141T>C | ENSP00000340328.2:p.Ser381Pro | |
| ENST00000378220.1:c.1141T>C | ENSP00000367465.1:p.Ser381Pro | |
| NM_022567.2:c.1141T>C | NP_072089.1:p.Ser381Pro | |
| XM_005272632.2:c.1141T>C | XP_005272689.1:p.Ser381Pro | |
| XM_017029709.1:c.1141T>C | XP_016885198.1:p.Ser381Pro | |
| NM_001378477.3:c.1126T>C MANE Select | NP_001365406.2:p.Ser376Pro | |
| NM_022567.3:c.1126T>C | NP_072089.2:p.Ser376Pro |