Linked Data
dbSNP Id:
rs1297028247
gnomAD v2:
12-21715953-C-A
gnomAD v3:
12-21563019-C-A
gnomAD v4:
12-21563019-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21563019C>A , CM000674.2:g.21563019C>A | GRCh38 |
| NC_000012.11:g.21715953C>A , CM000674.1:g.21715953C>A | GRCh37 |
| NC_000012.10:g.21607220C>A | NCBI36 |
| NG_016167.1:g.46829G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.961G>T MANE Select | ENSP00000261195.2:p.Glu321Ter | |
| ENST00000647960.1:c.*963G>T | ENSP00000497202.1:n.*963G>T | |
| ENST00000648372.1:n.888G>T | ||
| ENST00000261195.2:c.961G>T | ENSP00000261195.2:p.Glu321Ter | |
| NM_021957.3:c.961G>T | NP_068776.2:p.Glu321Ter | |
| XM_005253352.1:c.961G>T | XP_005253409.1:p.Glu321Ter | |
| XM_005253354.2:c.742G>T | XP_005253411.1:p.Glu248Ter | |
| XM_006719062.2:c.961G>T | XP_006719125.1:p.Glu321Ter | |
| XM_006719063.2:c.730G>T | XP_006719126.1:p.Glu244Ter | |
| NM_021957.4:c.961G>T MANE Select | NP_068776.2:p.Glu321Ter | |
| XM_006719063.3:c.730G>T | XP_006719126.1:p.Glu244Ter | |
| XM_017019245.2:c.961G>T | XP_016874734.1:p.Glu321Ter | |
| XM_024448960.1:c.961G>T | XP_024304728.1:p.Glu321Ter |