Linked Data
dbSNP Id:
rs17108344
ExAC:
12:70954464 C / T
gnomAD v2:
12-70954464-C-T
gnomAD v3:
12-70560684-C-T
gnomAD v4:
12-70560684-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70560684C>T , CM000674.2:g.70560684C>T | GRCh38 |
| NC_000012.11:g.70954464C>T , CM000674.1:g.70954464C>T | GRCh37 |
| NC_000012.10:g.69240731C>T | NCBI36 |
| NG_029940.1:g.81757G>A | |
| NG_029940.2:g.81757G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334414.11:c.4419G>A MANE Select | ENSP00000334928.6:p.Ala1473= | |
| ENST00000261266.9:c.3765G>A | ENSP00000261266.5:p.Ala1255= | |
| ENST00000334414.10:c.4419G>A | ENSP00000334928.6:p.Ala1473= | |
| ENST00000451516.6:c.*1394G>A | ENSP00000393028.3:n.*1394G>A | |
| ENST00000538708.5:c.3495G>A | ENSP00000438927.1:p.Ala1165= | |
| ENST00000548122.2:c.4056G>A | ENSP00000446982.1:p.Ala1352= | |
| ENST00000550358.5:c.4155G>A | ENSP00000448058.1:p.Ala1385= | |
| ENST00000550857.5:c.3495G>A | ENSP00000447302.1:p.Ala1165= | |
| ENST00000551525.5:c.4416G>A | ENSP00000448349.1:p.Ala1472= | |
| NM_001109754.2:c.4419G>A | NP_001103224.1:p.Ala1473= | |
| NM_001206971.1:c.3495G>A | NP_001193900.1:p.Ala1165= | |
| NM_001206972.1:c.3495G>A | NP_001193901.1:p.Ala1165= | |
| NM_002837.4:c.3765G>A | NP_002828.3:p.Ala1255= | |
| XM_006719528.1:c.4419G>A | XP_006719591.1:p.Ala1473= | |
| XM_006719529.2:c.3765G>A | XP_006719592.1:p.Ala1255= | |
| XM_011538614.1:c.4155G>A | XP_011536916.1:p.Ala1385= | |
| XR_945077.1:n.1274+2606C>T | ||
| NM_001109754.3:c.4419G>A | NP_001103224.1:p.Ala1473= | |
| NM_001206971.2:c.3495G>A | NP_001193900.1:p.Ala1165= | |
| NM_001206972.2:c.3495G>A | NP_001193901.1:p.Ala1165= | |
| NM_001330204.1:c.4155G>A | NP_001317133.1:p.Ala1385= | |
| NM_002837.5:c.3765G>A | NP_002828.3:p.Ala1255= | |
| XM_006719529.4:c.3765G>A | XP_006719592.1:p.Ala1255= | |
| XM_017019724.1:c.2067G>A | XP_016875213.1:p.Ala689= | |
| XR_001749196.1:n.1453C>T | ||
| XR_945075.3:n.673C>T | ||
| NM_001109754.4:c.4419G>A MANE Select | NP_001103224.1:p.Ala1473= | |
| NM_001206971.3:c.3495G>A | NP_001193900.1:p.Ala1165= | |
| NM_001206972.3:c.3495G>A | NP_001193901.1:p.Ala1165= | |
| NM_001330204.2:c.4155G>A | NP_001317133.1:p.Ala1385= | |
| NM_002837.6:c.3765G>A | NP_002828.3:p.Ala1255= |