Linked Data
ClinVar Variation Id:
2978708
ClinVar RCV Id:
RCV003839354
dbSNP Id:
rs782614014
ExAC:
19:42396113 C / T
gnomAD v2:
19-42396113-C-T
gnomAD v4:
19-41892042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41892042C>T , CM000681.2:g.41892042C>T | GRCh38 |
| NC_000019.9:g.42396113C>T , CM000681.1:g.42396113C>T | GRCh37 |
| NC_000019.8:g.47087953C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599846.6:c.243C>T | ENSP00000470715.1:p.Ala81= | |
| ENST00000698932.1:c.243C>T | ENSP00000514042.1:p.Ala81= | |
| ENST00000698933.1:c.288C>T | ENSP00000514043.1:p.Ala96= | |
| ENST00000698934.1:c.288C>T | ENSP00000514044.1:p.Ala96= | |
| ENST00000706938.1:c.243C>T | ENSP00000516658.1:p.Ala81= | |
| ENST00000354532.8:c.243C>T MANE Select | ENSP00000346532.3:p.Ala81= | |
| ENST00000337665.8:c.288C>T | ENSP00000337261.3:p.Ala96= | |
| ENST00000347545.8:c.226-289C>T | ENSP00000344429.3:n.226-289C>T | |
| ENST00000354532.7:c.243C>T | ENSP00000346532.2:p.Ala81= | |
| ENST00000378152.8:c.271-289C>T | ENSP00000367394.3:n.271-289C>T | |
| ENST00000596957.1:n.84C>T | ||
| ENST00000599846.5:c.243C>T | ENSP00000470715.1:p.Ala81= | |
| ENST00000600274.5:n.369C>T | ||
| NM_004706.3:c.243C>T | NP_004697.2:p.Ala81= | |
| NM_198977.1:c.226-289C>T | NP_945328.1:n.226-289C>T | |
| NM_199002.1:c.288C>T | NP_945353.1:p.Ala96= | |
| XM_005259386.3:c.288C>T | XP_005259443.1:p.Ala96= | |
| XM_005259387.3:c.288C>T | XP_005259444.1:p.Ala96= | |
| XM_005259388.2:c.243C>T | XP_005259445.1:p.Ala81= | |
| XM_005259389.3:c.288C>T | XP_005259446.1:p.Ala96= | |
| XM_005259390.3:c.288C>T | XP_005259447.1:p.Ala96= | |
| XM_006723463.2:c.288C>T | XP_006723526.1:p.Ala96= | |
| XM_011527468.1:c.288C>T | XP_011525770.1:p.Ala96= | |
| NM_004706.4:c.243C>T MANE Select | NP_004697.2:p.Ala81= | |
| NM_198977.2:c.226-289C>T | NP_945328.1:n.226-289C>T | |
| NM_199002.2:c.288C>T | NP_945353.1:p.Ala96= | |
| NM_001396000.1:c.243C>T | NP_001382929.1:p.Ala81= | |
| NM_001396002.1:c.226-289C>T | NP_001382931.1:n.226-289C>T | |
| NM_001396003.1:c.243C>T | NP_001382932.1:p.Ala81= | |
| NM_001396004.1:c.226-289C>T | NP_001382933.1:n.226-289C>T | |
| NM_001396006.1:c.243C>T | NP_001382935.1:p.Ala81= | |
| NR_173092.1:n.1572C>T | ||
| NR_173093.1:n.368C>T |