Linked Data
ClinVar Variation Id:
2042094
ClinVar RCV Id:
RCV002895463
dbSNP Id:
rs146839918
ExAC:
X:64734720 G / C
gnomAD v2:
X-64734720-G-C
gnomAD v3:
X-65514840-G-C
gnomAD v4:
X-65514840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.65514840G>C , CM000685.2:g.65514840G>C | GRCh38 |
| NC_000023.10:g.64734720G>C , CM000685.1:g.64734720G>C | GRCh37 |
| NC_000023.9:g.64651445G>C | NCBI36 |
| NG_016369.1:g.24967C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374811.8:c.2061C>G MANE Select | ENSP00000363944.3:p.Pro687= | |
| ENST00000677056.1:c.*851+8720C>G | ENSP00000504224.1:n.*851+8720C>G | |
| ENST00000677087.1:c.1713C>G | ENSP00000503907.1:p.Pro571= | |
| ENST00000677154.1:n.6116C>G | ||
| ENST00000677834.1:n.2049C>G | ||
| ENST00000677969.1:c.1876+3147C>G | ENSP00000503410.1:n.1876+3147C>G | |
| ENST00000677986.1:n.3110C>G | ||
| ENST00000678074.1:n.4688C>G | ||
| ENST00000678173.1:n.3396C>G | ||
| ENST00000678547.1:n.6679C>G | ||
| ENST00000678705.1:n.4776C>G | ||
| ENST00000678848.1:n.6964C>G | ||
| ENST00000678956.1:c.*1914C>G | ENSP00000504653.1:n.*1914C>G | |
| ENST00000679056.1:n.6039C>G | ||
| ENST00000679116.1:n.7254C>G | ||
| ENST00000679261.1:n.6161C>G | ||
| ENST00000679277.1:n.6497C>G | ||
| ENST00000374804.9:c.1884C>G | ENSP00000363937.5:p.Pro628= | |
| ENST00000374807.9:c.2010C>G | ENSP00000363940.5:p.Pro670= | |
| ENST00000374811.7:c.2061C>G | ENSP00000363944.3:p.Pro687= | |
| ENST00000484069.1:c.*3933C>G | ENSP00000473471.1:n.*3933C>G | |
| NM_001170649.1:c.2010C>G | NP_001164120.1:p.Pro670= | |
| NM_001170650.1:c.1884C>G | NP_001164121.1:p.Pro628= | |
| NM_031206.4:c.2061C>G | NP_112483.1:p.Pro687= | |
| XM_005262301.1:c.2058C>G | XP_005262358.1:p.Pro686= | |
| XM_005262307.1:c.1155C>G | XP_005262364.1:p.Pro385= | |
| XM_011531045.1:c.1935C>G | XP_011529347.1:p.Pro645= | |
| XR_244504.1:n.2253C>G | ||
| XR_430522.1:n.2250C>G | ||
| XM_005262301.2:c.2058C>G | XP_005262358.1:p.Pro686= | |
| XM_011531045.2:c.1935C>G | XP_011529347.1:p.Pro645= | |
| XM_017029877.2:c.2007C>G | XP_016885366.1:p.Pro669= | |
| XM_017029879.2:c.1155C>G | XP_016885368.1:p.Pro385= | |
| XM_017029880.2:c.1104C>G | XP_016885369.1:p.Pro368= | |
| XR_001755730.2:n.2189C>G | ||
| XR_001755731.2:n.3708C>G | ||
| XR_001755732.2:n.3771C>G | ||
| XR_001755733.2:n.3720C>G | ||
| XR_244504.2:n.2240C>G | ||
| XR_430522.2:n.2237C>G | ||
| NM_001375328.1:c.2058C>G | NP_001362257.1:p.Pro686= | |
| NM_001375332.1:c.1104C>G | NP_001362261.1:p.Pro368= | |
| NM_001375333.1:c.2007C>G | NP_001362262.1:p.Pro669= | |
| NM_031206.7:c.2061C>G MANE Select | NP_112483.1:p.Pro687= | |
| NR_164681.1:n.2249C>G | ||
| NM_001170649.2:c.2010C>G | NP_001164120.1:p.Pro670= | |
| NM_001170650.2:c.1884C>G | NP_001164121.1:p.Pro628= |