Linked Data
dbSNP Id:
rs1261345659
gnomAD v2:
1-203194800-T-G
gnomAD v3:
1-203225672-T-G
gnomAD v4:
1-203225672-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203225672T>G , CM000663.2:g.203225672T>G | GRCh38 |
| NC_000001.10:g.203194800T>G , CM000663.1:g.203194800T>G | GRCh37 |
| NC_000001.9:g.201461423T>G | NCBI36 |
| NG_012867.1:g.9061A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.254A>C MANE Select | ENSP00000356198.1:p.Lys85Thr | |
| ENST00000255427.7:c.254A>C | ENSP00000255427.3:p.Lys85Thr | |
| ENST00000367229.5:c.254A>C | ENSP00000356198.1:p.Lys85Thr | |
| ENST00000484834.5:n.4611A>C | ||
| ENST00000491855.5:c.254A>C | ENSP00000423778.1:p.Lys85Thr | |
| ENST00000503786.1:c.254A>C | ENSP00000421617.1:p.Lys85Thr | |
| ENST00000513472.5:n.450A>C | ||
| NM_001256125.1:c.254A>C | NP_001243054.2:p.Lys85Thr | |
| NM_001270509.1:c.254A>C | NP_001257438.1:p.Lys85Thr | |
| NM_003465.2:c.254A>C | NP_003456.1:p.Lys85Thr | |
| NR_045784.1:n.350A>C | ||
| NR_045785.1:n.350A>C | ||
| XM_011509109.1:c.299A>C | XP_011507411.1:p.Lys100Thr | |
| XM_011509110.1:c.299A>C | XP_011507412.1:p.Lys100Thr | |
| XR_921732.1:n.299A>C | ||
| NM_003465.3:c.254A>C MANE Select | NP_003456.1:p.Lys85Thr | |
| NM_001256125.2:c.254A>C | NP_001243054.2:p.Lys85Thr | |
| NR_045784.2:n.291A>C | ||
| NR_045785.2:n.291A>C |