Linked Data
dbSNP Id:
rs781972148
ExAC:
X:37655337 G / C
gnomAD v2:
X-37655337-G-C
gnomAD v4:
X-37796084-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796084G>C , CM000685.2:g.37796084G>C | GRCh38 |
| NC_000023.10:g.37655337G>C , CM000685.1:g.37655337G>C | GRCh37 |
| NC_000023.9:g.37540277G>C | NCBI36 |
| NG_009065.1:g.21064G>C , LRG_53:g.21064G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*126G>C | ENSP00000512461.1:n.*126G>C | |
| ENST00000696171.1:c.521G>C | ENSP00000512462.1:p.Trp174Ser | |
| ENST00000696172.1:c.338-2871G>C | ENSP00000512463.1:n.338-2871G>C | |
| ENST00000378588.5:c.617G>C MANE Select | ENSP00000367851.4:p.Trp206Ser | |
| ENST00000378588.4:c.617G>C | ENSP00000367851.4:p.Trp206Ser | |
| ENST00000465127.1:c.171+370084G>C | ENSP00000417050.1:n.171+370084G>C | |
| NM_000397.3:c.617G>C , LRG_53t1:c.617G>C | NP_000388.2:p.Trp206Ser | |
| XM_011543890.1:c.311G>C | XP_011542192.1:p.Trp104Ser | |
| NM_000397.4:c.617G>C MANE Select | NP_000388.2:p.Trp206Ser |