Linked Data
dbSNP Id:
rs759555986
ExAC:
7:81358932 A / G
gnomAD v2:
7-81358932-A-G
gnomAD v4:
7-81729616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81729616A>G , CM000669.2:g.81729616A>G | GRCh38 |
| NC_000007.13:g.81358932A>G , CM000669.1:g.81358932A>G | GRCh37 |
| NC_000007.12:g.81196868A>G | NCBI36 |
| NG_016274.1:g.45521T>C | |
| NG_016274.2:g.45521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1029T>C MANE Select | ENSP00000222390.5:p.Asn343= | |
| ENST00000457544.7:c.1014T>C | ENSP00000391238.2:p.Asn338= | |
| ENST00000222390.9:c.1029T>C | ENSP00000222390.5:p.Asn343= | |
| ENST00000457544.6:c.1014T>C | ENSP00000391238.2:p.Asn338= | |
| NM_000601.4:c.1029T>C | NP_000592.3:p.Asn343= | |
| NM_001010932.1:c.1014T>C | NP_001010932.1:p.Asn338= | |
| XM_006715956.2:c.1029T>C | XP_006716019.1:p.Asn343= | |
| XM_011516115.1:c.1014T>C | XP_011514417.1:p.Asn338= | |
| NM_000601.5:c.1029T>C | NP_000592.3:p.Asn343= | |
| NM_001010932.2:c.1014T>C | NP_001010932.1:p.Asn338= | |
| XM_011516115.2:c.1014T>C | XP_011514417.1:p.Asn338= | |
| NM_000601.6:c.1029T>C MANE Select | NP_000592.3:p.Asn343= | |
| NM_001010932.3:c.1014T>C | NP_001010932.1:p.Asn338= |