Linked Data
ClinVar Variation Id:
2494843
ClinVar RCV Id:
RCV003216242
dbSNP Id:
rs750380325
ExAC:
8:61777638 G / A
gnomAD v2:
8-61777638-G-A
gnomAD v4:
8-60865079-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865079G>A , CM000670.2:g.60865079G>A | GRCh38 |
| NC_000008.10:g.61777638G>A , CM000670.1:g.61777638G>A | GRCh37 |
| NC_000008.9:g.61940192G>A | NCBI36 |
| NG_007009.1:g.191300G>A , LRG_176:g.191300G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1316G>A | ||
| ENST00000695852.1:n.247G>A | ||
| ENST00000695853.1:c.*1199G>A | ENSP00000512218.1:n.*1199G>A | |
| ENST00000423902.7:c.8140G>A MANE Select | ENSP00000392028.1:p.Ala2714Thr | |
| ENST00000423902.6:c.8140G>A | ENSP00000392028.1:p.Ala2714Thr | |
| ENST00000524602.5:c.1993G>A | ENSP00000437061.1:p.Ala665Thr | |
| ENST00000528280.1:n.186G>A | ||
| ENST00000532149.1:n.562G>A | ||
| ENST00000618450.1:n.4176G>A | ||
| NM_001316690.1:c.1993G>A | NP_001303619.1:p.Ala665Thr | |
| NM_017780.3:c.8140G>A | NP_060250.2:p.Ala2714Thr | |
| XM_011517553.1:c.8230G>A | XP_011515855.1:p.Ala2744Thr | |
| XM_011517554.1:c.8230G>A | XP_011515856.1:p.Ala2744Thr | |
| XM_011517555.1:c.8227G>A | XP_011515857.1:p.Ala2743Thr | |
| XM_011517556.1:c.8008G>A | XP_011515858.1:p.Ala2670Thr | |
| XM_011517557.1:c.6217G>A | XP_011515859.1:p.Ala2073Thr | |
| XM_011517558.1:c.5767G>A | XP_011515860.1:p.Ala1923Thr | |
| XM_011517559.1:c.4975G>A | XP_011515861.1:p.Ala1659Thr | |
| XM_011517553.2:c.8230G>A | XP_011515855.1:p.Ala2744Thr | |
| XM_011517554.3:c.8230G>A | XP_011515856.1:p.Ala2744Thr | |
| XM_011517555.2:c.8227G>A | XP_011515857.1:p.Ala2743Thr | |
| XM_017013612.1:c.8230G>A | XP_016869101.1:p.Ala2744Thr | |
| XM_017013613.1:c.8137G>A | XP_016869102.1:p.Ala2713Thr | |
| NM_017780.4:c.8140G>A MANE Select | NP_060250.2:p.Ala2714Thr |