Linked Data
ClinVar Variation Id:
213485
ClinVar RCV Id:
RCV000197144
RCV000424564
RCV000659676
RCV001083295
RCV002315600
RCV002500606
RCV004530158
dbSNP Id:
rs200198847
ExAC:
X:153578465 G / A
gnomAD v2:
X-153578465-G-A
gnomAD v3:
X-154350097-G-A
gnomAD v4:
X-154350097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350097G>A , CM000685.2:g.154350097G>A | GRCh38 |
| NC_000023.10:g.153578465G>A , CM000685.1:g.153578465G>A | GRCh37 |
| NC_000023.9:g.153231659G>A | NCBI36 |
| NG_011506.1:g.29542C>T | |
| NG_011506.2:g.29542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7243C>T | ENSP00000353467.4:p.Pro2415Ser | |
| ENST00000369850.10:c.7267C>T MANE Select | ENSP00000358866.3:p.Pro2423Ser | |
| ENST00000369856.8:c.7186C>T | ENSP00000358872.4:p.Pro2396Ser | |
| ENST00000422373.6:c.4048C>T | ENSP00000416926.2:p.Pro1350Ser | |
| ENST00000610817.5:c.7324C>T | ENSP00000480593.2:n.7324C>T | |
| ENST00000673639.2:c.280-1407C>T | ||
| ENST00000676696.1:c.7546C>T | ENSP00000503392.1:n.7546C>T | |
| ENST00000678304.1:n.2985C>T | ||
| ENST00000344736.8:c.7147C>T | ENSP00000358863.3:p.Pro2383Ser | |
| ENST00000360319.8:c.7243C>T | ENSP00000353467.4:p.Pro2415Ser | |
| ENST00000369850.7:c.7267C>T | ENSP00000358866.3:p.Pro2423Ser | |
| ENST00000369856.7:c.7186C>T | ENSP00000358872.4:p.Pro2396Ser | |
| ENST00000420627.5:c.7223C>T | ENSP00000408921.1:n.7223C>T | |
| ENST00000422373.5:c.7243C>T | ENSP00000416926.1:p.Pro2415Ser | |
| ENST00000462590.1:n.259C>T | ||
| ENST00000490936.5:n.4496C>T | ||
| ENST00000498411.1:n.68-1267C>T | ||
| ENST00000498491.5:n.308C>T | ||
| ENST00000610817.4:c.6271C>T | ENSP00000480593.1:p.Pro2091Ser | |
| NM_001110556.1:c.7267C>T | NP_001104026.1:p.Pro2423Ser | |
| NM_001456.3:c.7243C>T | NP_001447.2:p.Pro2415Ser | |
| XM_011531127.1:c.7171C>T | XP_011529429.1:p.Pro2391Ser | |
| XM_011531128.1:c.7147C>T | XP_011529430.1:p.Pro2383Ser | |
| XM_011531129.1:c.7093C>T | XP_011529431.1:p.Pro2365Ser | |
| XM_011531130.1:c.7069C>T | XP_011529432.1:p.Pro2357Ser | |
| XM_011531131.1:c.7066C>T | XP_011529433.1:p.Pro2356Ser | |
| NM_001110556.2:c.7267C>T MANE Select | NP_001104026.1:p.Pro2423Ser | |
| NM_001456.4:c.7243C>T | NP_001447.2:p.Pro2415Ser |