Linked Data
ClinVar Variation Id:
8417
dbSNP Id:
rs387906396
gnomAD v2:
10-101571361-T-C
gnomAD v3:
10-99811604-T-C
gnomAD v4:
10-99811604-T-C
PubMed:
PMID:9878557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99811604T>C , CM000672.2:g.99811604T>C | GRCh38 |
| NC_000010.10:g.101571361T>C , CM000672.1:g.101571361T>C | GRCh37 |
| NC_000010.9:g.101561351T>C | NCBI36 |
| NG_011798.1:g.33899T>C | |
| NG_011798.2:g.34007T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.1967+2T>C MANE Select | ENSP00000497274.1:n.1967+2T>C | |
| ENST00000370449.8:c.1967+2T>C | ENSP00000359478.4:n.1967+2T>C | |
| NM_000392.4:c.1967+2T>C | NP_000383.1:n.1967+2T>C | |
| XM_006717630.2:c.1271+2T>C | XP_006717693.1:n.1271+2T>C | |
| XM_006717631.2:c.1967+2T>C | XP_006717694.1:n.1967+2T>C | |
| XM_011539291.1:c.1967+2T>C | XP_011537593.1:n.1967+2T>C | |
| XR_945604.1:n.2156+2T>C | ||
| XR_945605.1:n.2158+2T>C | ||
| NM_000392.5:c.1967+2T>C MANE Select | NP_000383.2:n.1967+2T>C | |
| XM_006717630.3:c.1271+2T>C | XP_006717693.1:n.1271+2T>C | |
| XM_006717631.4:c.1967+2T>C | XP_006717694.1:n.1967+2T>C | |
| XM_011539291.3:c.1967+2T>C | XP_011537593.1:n.1967+2T>C | |
| XM_017015675.2:c.1967+2T>C | XP_016871164.1:n.1967+2T>C | |
| XR_945604.3:n.2210+2T>C | ||
| XR_945605.3:n.2210+2T>C |