Linked Data
ClinVar Variation Id:
1275514
ClinVar RCV Id:
RCV001682393
dbSNP Id:
rs10932029
gnomAD v2:
2-204801768-T-C
gnomAD v3:
2-203937045-T-C
gnomAD v4:
2-203937045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203937045T>C , CM000664.2:g.203937045T>C | GRCh38 |
| NC_000002.11:g.204801768T>C , CM000664.1:g.204801768T>C | GRCh37 |
| NC_000002.10:g.204510013T>C | NCBI36 |
| NG_011586.1:g.5266T>C , LRG_65:g.5266T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316386.11:c.58+173T>C MANE Select | ENSP00000319476.6:n.58+173T>C | |
| ENST00000316386.10:c.58+173T>C | ENSP00000319476.6:n.58+173T>C | |
| ENST00000435193.1:c.58+173T>C | ENSP00000415951.1:n.58+173T>C | |
| NM_012092.3:c.58+173T>C , LRG_65t1:c.58+173T>C | NP_036224.1:n.58+173T>C | |
| XM_011511028.1:c.58+173T>C | XP_011509330.1:n.58+173T>C | |
| XM_011511030.1:c.-360+173T>C | XP_011509332.1:n.-360+173T>C | |
| XM_011511031.1:c.-264+173T>C | XP_011509333.1:n.-264+173T>C | |
| XR_427213.2:n.366+272A>G | ||
| XR_001739861.1:n.380+272A>G | ||
| XR_427213.3:n.380+272A>G | ||
| NM_012092.4:c.58+173T>C MANE Select | NP_036224.1:n.58+173T>C |