Linked Data
dbSNP Id:
rs1470644863
gnomAD v3:
17-37490467-G-C
gnomAD v4:
17-37490467-G-C
MyVariant Identifiers:
chr17:g.37490467G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37490467G>C , CM000679.2:g.37490467G>C | GRCh38 |
| NC_000017.10:g.35850573G>C , CM000679.1:g.35850573G>C | GRCh37 |
| NC_000017.9:g.32924686G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617516.5:c.-181+509G>C MANE Select | ENSP00000478595.1:n.-181+509G>C | |
| ENST00000617516.4:c.-181+509G>C | ENSP00000478595.1:n.-181+509G>C | |
| NM_007026.3:c.-181+509G>C | NP_008957.1:n.-181+509G>C | |
| XM_011524234.1:c.-181+1512G>C | XP_011522536.1:n.-181+1512G>C | |
| XM_005256977.3:c.-1341G>C | XP_005257034.1:n.-1341G>C | |
| NM_007026.4:c.-181+509G>C MANE Select | NP_008957.1:n.-181+509G>C |