Linked Data
dbSNP Id:
rs755244470
ExAC:
16:90002230 G / C
gnomAD v2:
16-90002230-G-C
gnomAD v4:
16-89935822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935822G>C , CM000678.2:g.89935822G>C | GRCh38 |
| NC_000016.9:g.90002230G>C , CM000678.1:g.90002230G>C | GRCh37 |
| NC_000016.8:g.88529731G>C | NCBI36 |
| NG_027810.1:g.18814G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.*18G>C MANE Select | ENSP00000320295.7:n.*18G>C | |
| ENST00000680788.1:n.4792G>C | ||
| ENST00000315491.11:c.*18G>C | ENSP00000320295.7:n.*18G>C | |
| ENST00000554444.5:c.*18G>C | ENSP00000451617.1:n.*18G>C | |
| ENST00000555576.5:c.277+2244G>C | ENSP00000452554.1:n.277+2244G>C | |
| ENST00000555609.5:c.*1456G>C | ENSP00000451276.1:n.*1456G>C | |
| ENST00000556922.1:c.*18G>C | ENSP00000451560.1:n.*18G>C | |
| NM_001197181.1:c.*18G>C | NP_001184110.1:n.*18G>C | |
| NM_006086.3:c.*18G>C | NP_006077.2:n.*18G>C | |
| NM_006086.4:c.*18G>C MANE Select | NP_006077.2:n.*18G>C | |
| NM_001197181.2:c.*18G>C | NP_001184110.1:n.*18G>C |