Linked Data
ClinVar Variation Id:
374655
ClinVar RCV Id:
RCV000416051
dbSNP Id:
rs201334158
ExAC:
2:240036971 C / T
gnomAD v2:
2-240036971-C-T
gnomAD v3:
2-239115275-C-T
gnomAD v4:
2-239115275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239115275C>T , CM000664.2:g.239115275C>T | GRCh38 |
| NC_000002.11:g.240036971C>T , CM000664.1:g.240036971C>T | GRCh37 |
| NC_000002.10:g.239701908C>T | NCBI36 |
| NG_009235.1:g.290673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543185.6:c.1569G>A MANE Select | ENSP00000440481.3:p.Pro523= | |
| ENST00000345617.7:c.1554G>A | ENSP00000264606.3:p.Pro518= | |
| ENST00000463007.5:n.2006G>A | ||
| ENST00000493582.5:n.2041G>A | ||
| ENST00000535493.5:n.1912G>A | ||
| ENST00000543185.5:c.1218G>A | ENSP00000440481.2:p.Pro406= | |
| NM_006037.3:c.1554G>A | NP_006028.2:p.Pro518= | |
| XM_006712877.2:c.1626G>A | XP_006712940.1:p.Pro542= | |
| XM_006712878.2:c.1569G>A | XP_006712941.1:p.Pro523= | |
| XM_006712879.2:c.1488G>A | XP_006712942.1:p.Pro496= | |
| XM_006712880.2:c.1488G>A | XP_006712943.1:p.Pro496= | |
| XM_011512217.1:c.1641G>A | XP_011510519.1:p.Pro547= | |
| XM_011512218.1:c.1641G>A | XP_011510520.1:p.Pro547= | |
| XM_011512219.1:c.1626G>A | XP_011510521.1:p.Pro542= | |
| XM_011512220.1:c.1572G>A | XP_011510522.1:p.Pro524= | |
| XM_011512221.1:c.1569G>A | XP_011510523.1:p.Pro523= | |
| XM_011512222.1:c.1569G>A | XP_011510524.1:p.Pro523= | |
| XM_011512223.1:c.1569G>A | XP_011510525.1:p.Pro523= | |
| XM_011512224.1:c.1554G>A | XP_011510526.1:p.Pro518= | |
| XM_011512225.1:c.1539G>A | XP_011510527.1:p.Pro513= | |
| XM_011512226.1:c.1497G>A | XP_011510528.1:p.Pro499= | |
| XM_011512227.1:c.1425G>A | XP_011510529.1:p.Pro475= | |
| XM_011512228.1:c.1488G>A | XP_011510530.1:p.Pro496= | |
| XM_011512229.1:c.1488G>A | XP_011510531.1:p.Pro496= | |
| XM_011512230.1:c.321G>A | XP_011510532.1:p.Pro107= | |
| XM_006712877.3:c.1626G>A | XP_006712940.1:p.Pro542= | |
| XM_006712878.3:c.1569G>A | XP_006712941.1:p.Pro523= | |
| XM_006712879.3:c.1488G>A | XP_006712942.1:p.Pro496= | |
| XM_006712880.3:c.1488G>A | XP_006712943.1:p.Pro496= | |
| XM_011512217.2:c.1641G>A | XP_011510519.1:p.Pro547= | |
| XM_011512218.2:c.1641G>A | XP_011510520.1:p.Pro547= | |
| XM_011512219.2:c.1626G>A | XP_011510521.1:p.Pro542= | |
| XM_011512220.2:c.1572G>A | XP_011510522.1:p.Pro524= | |
| XM_011512222.3:c.1569G>A | XP_011510524.1:p.Pro523= | |
| XM_011512223.2:c.1569G>A | XP_011510525.1:p.Pro523= | |
| XM_011512224.2:c.1554G>A | XP_011510526.1:p.Pro518= | |
| XM_011512225.2:c.1539G>A | XP_011510527.1:p.Pro513= | |
| XM_011512226.2:c.1497G>A | XP_011510528.1:p.Pro499= | |
| XM_011512227.2:c.1425G>A | XP_011510529.1:p.Pro475= | |
| XM_017005394.1:c.1509G>A | XP_016860883.1:p.Pro503= | |
| XM_017005395.1:c.1053G>A | XP_016860884.1:p.Pro351= | |
| XM_024453257.1:c.1488G>A | XP_024309025.1:p.Pro496= | |
| NM_001378414.1:c.1569G>A MANE Select | NP_001365343.1:p.Pro523= | |
| NM_001378415.1:c.1569G>A | NP_001365344.1:p.Pro523= | |
| NM_001378416.1:c.1554G>A | NP_001365345.1:p.Pro518= | |
| NM_001378417.1:c.1554G>A | NP_001365346.1:p.Pro518= | |
| NM_006037.4:c.1554G>A | NP_006028.2:p.Pro518= |