Linked Data
ClinVar Variation Id:
359441
ClinVar RCV Id:
RCV000344349
dbSNP Id:
rs886062122
gnomAD v3:
7-156893147-C-T
gnomAD v4:
7-156893147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.156893147C>T , CM000669.2:g.156893147C>T | GRCh38 |
| NC_000007.13:g.156685841C>T , CM000669.1:g.156685841C>T | GRCh37 |
| NC_000007.12:g.156378602C>T | NCBI36 |
| NG_009240.1:g.5062G>A | |
| NG_009240.2:g.5062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353442.10:c.-154G>A MANE Select | ENSP00000326604.7:n.-154G>A | |
| ENST00000353442.9:c.-154G>A | ENSP00000326604.7:n.-154G>A | |
| ENST00000359422.8:c.-610G>A | ENSP00000352392.4:n.-610G>A | |
| ENST00000414218.1:c.-154G>A | ENSP00000392557.1:n.-154G>A | |
| ENST00000430278.5:n.37G>A | ||
| ENST00000433968.5:n.37G>A | ||
| ENST00000434278.5:c.-154G>A | ENSP00000413539.1:n.-154G>A | |
| ENST00000434453.1:c.-154G>A | ENSP00000397698.1:n.-154G>A | |
| ENST00000434503.5:c.-154G>A | ENSP00000395754.1:n.-154G>A | |
| ENST00000444719.5:c.-154G>A | ENSP00000393928.1:n.-154G>A | |
| ENST00000454132.5:c.-154G>A | ENSP00000414795.1:n.-154G>A | |
| ENST00000485985.1:n.37G>A | ||
| NM_022458.3:c.-154G>A | NP_071903.2:n.-154G>A | |
| XM_005249555.2:c.-154G>A | XP_005249612.1:n.-154G>A | |
| XM_005249558.2:c.-154G>A | XP_005249615.1:n.-154G>A | |
| XR_428185.1:n.37G>A | ||
| XR_927508.1:n.37G>A | ||
| NM_001350953.1:c.-154G>A | NP_001337882.1:n.-154G>A | |
| NM_001350954.1:c.-293G>A | NP_001337883.1:n.-293G>A | |
| NM_001350955.1:c.-786G>A | NP_001337884.1:n.-786G>A | |
| NM_001350956.1:c.-688G>A | NP_001337885.1:n.-688G>A | |
| NM_001350957.1:c.-621G>A | NP_001337886.1:n.-621G>A | |
| NM_001350958.1:c.-688G>A | NP_001337887.1:n.-688G>A | |
| NM_001363409.1:c.-154G>A | NP_001350338.1:n.-154G>A | |
| NM_001363410.1:c.-154G>A | NP_001350339.1:n.-154G>A | |
| NM_001363411.1:c.-621G>A | NP_001350340.1:n.-621G>A | |
| NM_001363412.1:c.-144G>A | NP_001350341.1:n.-144G>A | |
| NM_001363413.1:c.-806G>A | NP_001350342.1:n.-806G>A | |
| NR_146958.1:n.62G>A | ||
| NR_146959.1:n.62G>A | ||
| XM_017012515.2:c.-154G>A | XP_016868004.1:n.-154G>A | |
| XR_001744847.1:n.37G>A | ||
| XR_001744848.1:n.37G>A | ||
| XR_001744850.1:n.37G>A | ||
| XR_002956477.1:n.37G>A | ||
| XR_002956478.1:n.37G>A | ||
| XR_002956479.1:n.36G>A | ||
| XR_002956480.1:n.37G>A | ||
| XR_002956481.1:n.37G>A | ||
| NM_001350953.2:c.-154G>A | NP_001337882.1:n.-154G>A | |
| NM_001350954.2:c.-293G>A | NP_001337883.1:n.-293G>A | |
| NM_001350955.2:c.-786G>A | NP_001337884.1:n.-786G>A | |
| NM_001350956.2:c.-688G>A | NP_001337885.1:n.-688G>A | |
| NM_001350957.2:c.-621G>A | NP_001337886.1:n.-621G>A | |
| NM_001350958.2:c.-688G>A | NP_001337887.1:n.-688G>A | |
| NM_001363409.2:c.-154G>A | NP_001350338.1:n.-154G>A | |
| NM_001363410.2:c.-154G>A | NP_001350339.1:n.-154G>A | |
| NM_001363411.2:c.-621G>A | NP_001350340.1:n.-621G>A | |
| NM_001363412.2:c.-144G>A | NP_001350341.1:n.-144G>A | |
| NM_001363413.2:c.-806G>A | NP_001350342.1:n.-806G>A | |
| NM_022458.4:c.-154G>A MANE Select | NP_071903.2:n.-154G>A | |
| NR_146958.2:n.37G>A | ||
| NR_146959.2:n.37G>A |