Linked Data
ClinVar Variation Id:
3070554
ClinVar RCV Id:
RCV004013064
dbSNP Id:
rs1837621923
gnomAD v3:
10-43100694-T-C
gnomAD v4:
10-43100694-T-C
MyVariant Identifiers:
chr10:g.43596142T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43100694T>C , CM000672.2:g.43100694T>C | GRCh38 |
| NC_000010.10:g.43596142T>C , CM000672.1:g.43596142T>C | GRCh37 |
| NC_000010.9:g.42916148T>C | NCBI36 |
| NG_007489.1:g.28626T>C , LRG_518:g.28626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.309T>C | ENSP00000480088.2:p.His103= | |
| ENST00000683278.1:c.211T>C | ||
| ENST00000684216.1:c.211T>C | ||
| ENST00000340058.6:c.309T>C | ENSP00000344798.4:p.His103= | |
| ENST00000355710.8:c.309T>C MANE Select | ENSP00000347942.3:p.His103= | |
| ENST00000638465.1:c.211T>C | ||
| ENST00000640619.1:c.211T>C | ||
| ENST00000671844.1:c.309T>C | ENSP00000500541.1:p.His103= | |
| ENST00000672389.1:c.74-10513T>C | ENSP00000500252.1:n.74-10513T>C | |
| ENST00000340058.5:c.309T>C | ENSP00000344798.4:p.His103= | |
| ENST00000355710.7:c.309T>C | ENSP00000347942.3:p.His103= | |
| ENST00000498820.5:c.74-11405T>C | ENSP00000419080.1:n.74-11405T>C | |
| ENST00000615310.4:c.309T>C | ENSP00000480088.1:p.His103= | |
| NM_020630.4:c.309T>C , LRG_518t2:c.309T>C | NP_065681.1:p.His103= | |
| NM_020975.4:c.309T>C , LRG_518t1:c.309T>C | NP_066124.1:p.His103= | |
| XM_011540027.1:c.309T>C | XP_011538329.1:p.His103= | |
| NM_020630.5:c.309T>C | NP_065681.1:p.His103= | |
| NM_020975.5:c.309T>C | NP_066124.1:p.His103= | |
| NM_020975.6:c.309T>C MANE Select | NP_066124.1:p.His103= | |
| NM_020630.6:c.309T>C | NP_065681.1:p.His103= |