Linked Data
dbSNP Id:
rs766351482
ExAC:
5:80502693 T / G
gnomAD v2:
5-80502693-T-G
gnomAD v3:
5-81206874-T-G
gnomAD v4:
5-81206874-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206874T>G , CM000667.2:g.81206874T>G | GRCh38 |
| NC_000005.9:g.80502693T>G , CM000667.1:g.80502693T>G | GRCh37 |
| NC_000005.8:g.80538449T>G | NCBI36 |
| NG_030334.1:g.251186T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2936T>G MANE Select | ENSP00000265080.4:p.Ile979Ser | |
| ENST00000265080.8:c.2936T>G | ENSP00000265080.4:p.Ile979Ser | |
| ENST00000503795.1:c.2936T>G | ENSP00000421771.1:p.Ile979Ser | |
| NM_006909.2:c.2936T>G | NP_008840.1:p.Ile979Ser | |
| XM_017009682.2:c.2651T>G | XP_016865171.1:p.Ile884Ser | |
| XR_002956166.1:n.3052T>G | ||
| NM_006909.3:c.2936T>G MANE Select | NP_008840.1:p.Ile979Ser |