Linked Data
ClinVar Variation Id:
126371
dbSNP Id:
rs587779752
gnomAD v2:
7-156584168-G-A
gnomAD v3:
7-156791474-G-A
gnomAD v4:
7-156791474-G-A
PubMed:
PMID:24777739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.156791474G>A , CM000669.2:g.156791474G>A | GRCh38 |
| NC_000007.13:g.156584168G>A , CM000669.1:g.156584168G>A | GRCh37 |
| NC_000007.12:g.156276929G>A | NCBI36 |
| NG_009240.1:g.106735C>T | |
| NG_009240.2:g.106735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353442.10:c.423+4915C>T MANE Select | ENSP00000326604.7:n.423+4915C>T | |
| ENST00000650699.1:c.-112+4915C>T | ENSP00000498334.1:n.-112+4915C>T | |
| ENST00000353442.9:c.423+4915C>T | ENSP00000326604.7:n.423+4915C>T | |
| ENST00000359422.8:c.-34+4915C>T | ENSP00000352392.4:n.-34+4915C>T | |
| ENST00000415428.5:c.417+4915C>T | ENSP00000408256.1:n.417+4915C>T | |
| ENST00000430278.5:n.330-27679C>T | ||
| ENST00000434278.5:c.*166+4915C>T | ENSP00000413539.1:n.*166+4915C>T | |
| ENST00000434503.5:c.140-27679C>T | ENSP00000395754.1:n.140-27679C>T | |
| ENST00000444719.5:c.*245+4915C>T | ENSP00000393928.1:n.*245+4915C>T | |
| ENST00000448926.5:c.105+4915C>T | ENSP00000403052.1:n.105+4915C>T | |
| ENST00000454132.5:c.*382+4915C>T | ENSP00000414795.1:n.*382+4915C>T | |
| ENST00000461469.5:n.467+4915C>T | ||
| NM_022458.3:c.423+4915C>T | NP_071903.2:n.423+4915C>T | |
| XM_005249555.2:c.423+4915C>T | XP_005249612.1:n.423+4915C>T | |
| XM_005249556.2:c.-112+4915C>T | XP_005249613.1:n.-112+4915C>T | |
| XM_005249558.2:c.423+4915C>T | XP_005249615.1:n.423+4915C>T | |
| XM_011516462.1:c.144+4915C>T | XP_011514764.1:n.144+4915C>T | |
| XR_428185.1:n.613+4915C>T | ||
| XR_927508.1:n.613+4915C>T | ||
| NM_001350953.1:c.423+4915C>T | NP_001337882.1:n.423+4915C>T | |
| NM_001350954.1:c.144+4915C>T | NP_001337883.1:n.144+4915C>T | |
| NM_001350955.1:c.-112+4915C>T | NP_001337884.1:n.-112+4915C>T | |
| NM_001350956.1:c.-112+4915C>T | NP_001337885.1:n.-112+4915C>T | |
| NM_001350957.1:c.54+4915C>T | NP_001337886.1:n.54+4915C>T | |
| NM_001350958.1:c.-112+4915C>T | NP_001337887.1:n.-112+4915C>T | |
| NM_001363409.1:c.423+4915C>T | NP_001350338.1:n.423+4915C>T | |
| NM_001363410.1:c.423+4915C>T | NP_001350339.1:n.423+4915C>T | |
| NM_001363411.1:c.54+4915C>T | NP_001350340.1:n.54+4915C>T | |
| NM_001363412.1:c.360+4915C>T | NP_001350341.1:n.360+4915C>T | |
| NM_001363413.1:c.-112+4915C>T | NP_001350342.1:n.-112+4915C>T | |
| NR_146958.1:n.638+4915C>T | ||
| NR_146959.1:n.638+4915C>T | ||
| XM_017012515.2:c.423+4915C>T | XP_016868004.1:n.423+4915C>T | |
| XR_001744847.1:n.613+4915C>T | ||
| XR_001744848.1:n.613+4915C>T | ||
| XR_001744850.1:n.613+4915C>T | ||
| XR_002956477.1:n.613+4915C>T | ||
| XR_002956478.1:n.613+4915C>T | ||
| XR_002956479.1:n.472+4915C>T | ||
| XR_002956480.1:n.613+4915C>T | ||
| XR_002956481.1:n.613+4915C>T | ||
| XR_002956482.1:n.434+4915C>T | ||
| NM_001350953.2:c.423+4915C>T | NP_001337882.1:n.423+4915C>T | |
| NM_001350954.2:c.144+4915C>T | NP_001337883.1:n.144+4915C>T | |
| NM_001350955.2:c.-112+4915C>T | NP_001337884.1:n.-112+4915C>T | |
| NM_001350956.2:c.-112+4915C>T | NP_001337885.1:n.-112+4915C>T | |
| NM_001350957.2:c.54+4915C>T | NP_001337886.1:n.54+4915C>T | |
| NM_001350958.2:c.-112+4915C>T | NP_001337887.1:n.-112+4915C>T | |
| NM_001363409.2:c.423+4915C>T | NP_001350338.1:n.423+4915C>T | |
| NM_001363410.2:c.423+4915C>T | NP_001350339.1:n.423+4915C>T | |
| NM_001363411.2:c.54+4915C>T | NP_001350340.1:n.54+4915C>T | |
| NM_001363412.2:c.360+4915C>T | NP_001350341.1:n.360+4915C>T | |
| NM_001363413.2:c.-112+4915C>T | NP_001350342.1:n.-112+4915C>T | |
| NM_022458.4:c.423+4915C>T MANE Select | NP_071903.2:n.423+4915C>T | |
| NR_146958.2:n.613+4915C>T | ||
| NR_146959.2:n.613+4915C>T |