Linked Data
dbSNP Id:
rs747470282
ExAC:
X:18646492 G / C
gnomAD v2:
X-18646492-G-C
gnomAD v4:
X-18628372-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628372G>C , CM000685.2:g.18628372G>C | GRCh38 |
| NC_000023.10:g.18646492G>C , CM000685.1:g.18646492G>C | GRCh37 |
| NC_000023.9:g.18556413G>C | NCBI36 |
| NG_008475.1:g.207768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2498G>C MANE Select | ENSP00000485244.1:p.Ser833Thr | |
| ENST00000674046.1:c.2621G>C | ENSP00000501174.1:p.Ser874Thr | |
| ENST00000379989.6:c.2498G>C | ENSP00000369325.3:p.Ser833Thr | |
| ENST00000379996.7:c.2498G>C | ENSP00000369332.3:p.Ser833Thr | |
| ENST00000623535.1:c.2498G>C | ENSP00000485244.1:p.Ser833Thr | |
| NM_001037343.1:c.2498G>C | NP_001032420.1:p.Ser833Thr | |
| NM_003159.2:c.2498G>C | NP_003150.1:p.Ser833Thr | |
| XM_011545569.1:c.2570G>C | XP_011543871.1:p.Ser857Thr | |
| XM_011545570.1:c.2489G>C | XP_011543872.1:p.Ser830Thr | |
| XR_950484.1:n.2873G>C | ||
| NM_001323289.1:c.2498G>C | NP_001310218.1:p.Ser833Thr | |
| NM_001323289.2:c.2498G>C MANE Select | NP_001310218.1:p.Ser833Thr | |
| NM_001037343.2:c.2498G>C | NP_001032420.1:p.Ser833Thr | |
| NM_003159.3:c.2498G>C | NP_003150.1:p.Ser833Thr |