Linked Data
dbSNP Id:
rs756720478
ExAC:
X:18622630 G / C
gnomAD v2:
X-18622630-G-C
gnomAD v4:
X-18604510-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604510G>C , CM000685.2:g.18604510G>C | GRCh38 |
| NC_000023.10:g.18622630G>C , CM000685.1:g.18622630G>C | GRCh37 |
| NC_000023.9:g.18532551G>C | NCBI36 |
| NG_008475.1:g.183906G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1586G>C MANE Select | ENSP00000485244.1:p.Ser529Thr | |
| ENST00000635828.1:c.1586G>C | ENSP00000490170.1:p.Ser529Thr | |
| ENST00000674046.1:c.1586G>C | ENSP00000501174.1:p.Ser529Thr | |
| ENST00000379989.6:c.1586G>C | ENSP00000369325.3:p.Ser529Thr | |
| ENST00000379996.7:c.1586G>C | ENSP00000369332.3:p.Ser529Thr | |
| ENST00000463994.4:c.1586G>C | ENSP00000485184.1:p.Ser529Thr | |
| ENST00000623535.1:c.1586G>C | ENSP00000485244.1:p.Ser529Thr | |
| NM_001037343.1:c.1586G>C | NP_001032420.1:p.Ser529Thr | |
| NM_003159.2:c.1586G>C | NP_003150.1:p.Ser529Thr | |
| XM_011545569.1:c.1535G>C | XP_011543871.1:p.Ser512Thr | |
| XM_011545570.1:c.1454G>C | XP_011543872.1:p.Ser485Thr | |
| XR_950484.1:n.1838G>C | ||
| NM_001323289.1:c.1586G>C | NP_001310218.1:p.Ser529Thr | |
| NM_001323289.2:c.1586G>C MANE Select | NP_001310218.1:p.Ser529Thr | |
| NM_001037343.2:c.1586G>C | NP_001032420.1:p.Ser529Thr | |
| NM_003159.3:c.1586G>C | NP_003150.1:p.Ser529Thr |