Linked Data
dbSNP Id:
rs114137957
gnomAD v2:
7-87374869-T-G
gnomAD v3:
7-87745553-T-G
gnomAD v4:
7-87745553-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87745553T>G , CM000669.2:g.87745553T>G | GRCh38 |
| NC_000007.13:g.87374869T>G , CM000669.1:g.87374869T>G | GRCh37 |
| NC_000007.12:g.87212805T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394654.4:c.629+3974T>G MANE Select | ENSP00000378149.3:n.629+3974T>G | |
| ENST00000312373.12:n.396+3974T>G | ||
| ENST00000338056.7:c.680+3974T>G | ENSP00000337732.3:n.680+3974T>G | |
| ENST00000394654.3:c.629+3974T>G | ENSP00000378149.3:n.629+3974T>G | |
| ENST00000493037.5:c.629+3974T>G | ENSP00000420394.1:n.629+3974T>G | |
| ENST00000496000.1:n.515+3974T>G | ||
| NM_001134405.1:c.629+3974T>G | NP_001127877.1:n.629+3974T>G | |
| NM_001134406.1:c.629+3974T>G | NP_001127878.1:n.629+3974T>G | |
| NM_138290.2:c.680+3974T>G | NP_612147.1:n.680+3974T>G | |
| XM_005250156.2:c.629+3974T>G | XP_005250213.1:n.629+3974T>G | |
| XM_005250158.2:c.269+3974T>G | XP_005250215.1:n.269+3974T>G | |
| XM_011515826.1:c.680+3974T>G | XP_011514128.1:n.680+3974T>G | |
| XM_011515827.1:c.680+3974T>G | XP_011514129.1:n.680+3974T>G | |
| XM_011515828.1:c.287+3974T>G | XP_011514130.1:n.287+3974T>G | |
| XM_011515829.1:c.287+3974T>G | XP_011514131.1:n.287+3974T>G | |
| XM_011515828.2:c.287+3974T>G | XP_011514130.1:n.287+3974T>G | |
| XM_011515829.2:c.287+3974T>G | XP_011514131.1:n.287+3974T>G | |
| XM_017011761.2:c.287+3974T>G | XP_016867250.1:n.287+3974T>G | |
| XM_017011762.1:c.287+3974T>G | XP_016867251.1:n.287+3974T>G | |
| XM_017011763.2:c.287+3974T>G | XP_016867252.1:n.287+3974T>G | |
| XM_017011764.1:c.269+3974T>G | XP_016867253.1:n.269+3974T>G | |
| XM_017011765.2:c.287+3974T>G | XP_016867254.1:n.287+3974T>G | |
| XM_017011766.2:c.287+3974T>G | XP_016867255.1:n.287+3974T>G | |
| XM_024446669.1:c.269+3974T>G | XP_024302437.1:n.269+3974T>G | |
| NM_001134405.2:c.629+3974T>G MANE Select | NP_001127877.1:n.629+3974T>G | |
| NM_001134406.2:c.629+3974T>G | NP_001127878.1:n.629+3974T>G | |
| NM_138290.3:c.680+3974T>G | NP_612147.1:n.680+3974T>G | |
| NM_001394224.1:c.680+3974T>G | NP_001381153.1:n.680+3974T>G | |
| NM_001394225.1:c.626+3974T>G | NP_001381154.1:n.626+3974T>G | |
| NM_001394226.1:c.629+3974T>G | NP_001381155.1:n.629+3974T>G | |
| NM_001394227.1:c.680+3974T>G | NP_001381156.1:n.680+3974T>G | |
| NM_001394228.1:c.287+3974T>G | NP_001381157.1:n.287+3974T>G |