Linked Data
dbSNP Id:
rs752576203
ExAC:
7:150884001 T / G
gnomAD v2:
7-150884001-T-G
gnomAD v4:
7-151186914-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186914T>G , CM000669.2:g.151186914T>G | GRCh38 |
| NC_000007.13:g.150884001T>G , CM000669.1:g.150884001T>G | GRCh37 |
| NC_000007.12:g.150514934T>G | NCBI36 |
| NG_017016.1:g.5919A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.217A>C MANE Select | ENSP00000391137.2:p.Ile73Leu | |
| ENST00000275838.5:c.217A>C | ENSP00000275838.1:p.Ile73Leu | |
| ENST00000377867.7:c.272-255A>C | ENSP00000367098.3:n.272-255A>C | |
| ENST00000415615.1:c.*261A>C | ENSP00000410871.1:n.*261A>C | |
| ENST00000420175.2:c.217A>C | ENSP00000391137.2:p.Ile73Leu | |
| NM_001142459.1:c.217A>C | NP_001135931.2:p.Ile73Leu | |
| NM_001142460.1:c.217A>C | NP_001135932.2:p.Ile73Leu | |
| NM_080871.3:c.272-255A>C | NP_543147.2:n.272-255A>C | |
| XM_005249949.3:c.352A>C | XP_005250006.1:p.Ile118Leu | |
| NM_001142459.2:c.217A>C MANE Select | NP_001135931.2:p.Ile73Leu | |
| NM_080871.4:c.272-255A>C | NP_543147.2:n.272-255A>C |