Linked Data
dbSNP Id:
rs764067707
ExAC:
11:2797241 G / A
gnomAD v2:
11-2797241-G-A
gnomAD v4:
11-2776011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776011G>A , CM000673.2:g.2776011G>A | GRCh38 |
| NC_000011.9:g.2797241G>A , CM000673.1:g.2797241G>A | GRCh37 |
| NC_000011.8:g.2753817G>A | NCBI36 |
| NG_008935.1:g.336021G>A , LRG_287:g.336021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1285G>A | ENSP00000434560.2:p.Gly429Ser | |
| ENST00000646564.2:c.1102G>A | ENSP00000495806.2:p.Gly368Ser | |
| ENST00000155840.12:c.1642G>A MANE Select | ENSP00000155840.2:p.Gly548Ser | |
| ENST00000335475.6:c.1261G>A | ENSP00000334497.5:p.Gly421Ser | |
| ENST00000646564.1:c.748G>A | ENSP00000495806.1:p.Gly250Ser | |
| ENST00000155840.9:c.1642G>A | ENSP00000155840.2:p.Gly548Ser | |
| ENST00000335475.5:c.1261G>A | ENSP00000334497.5:p.Gly421Ser | |
| NM_000218.2:c.1642G>A , LRG_287t1:c.1642G>A | NP_000209.2:p.Gly548Ser | |
| NM_181798.1:c.1261G>A , LRG_287t2:c.1261G>A | NP_861463.1:p.Gly421Ser | |
| NM_000218.3:c.1642G>A MANE Select | NP_000209.2:p.Gly548Ser |