Linked Data
dbSNP Id:
rs1563247981
gnomAD v2:
8-18250932-T-C
gnomAD v3:
8-18393422-T-C
gnomAD v4:
8-18393422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18393422T>C , CM000670.2:g.18393422T>C | GRCh38 |
| NC_000008.10:g.18250932T>C , CM000670.1:g.18250932T>C | GRCh37 |
| NC_000008.9:g.18295212T>C | NCBI36 |
| NG_012246.1:g.7178T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.-7+2077T>C MANE Select | ENSP00000286479.3:n.-7+2077T>C | |
| ENST00000286479.3:c.-7+2077T>C | ENSP00000286479.3:n.-7+2077T>C | |
| ENST00000520116.1:c.-58+2077T>C | ENSP00000428416.1:n.-58+2077T>C | |
| NM_000015.2:c.-7+2077T>C | NP_000006.2:n.-7+2077T>C | |
| XM_011544358.1:c.-7+686T>C | XP_011542660.1:n.-7+686T>C | |
| XM_017012938.1:c.-7+6386T>C | XP_016868427.1:n.-7+6386T>C | |
| NM_000015.3:c.-7+2077T>C MANE Select | NP_000006.2:n.-7+2077T>C |