Linked Data
gnomAD v4:
4-46993548-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993548C>G , CM000666.2:g.46993548C>G | GRCh38 |
| NC_000004.11:g.46995565C>G , CM000666.1:g.46995565C>G | GRCh37 |
| NC_000004.10:g.46690322C>G | NCBI36 |
| NG_011809.1:g.5016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.-124G>C MANE Select | ENSP00000264318.3:n.-124G>C | |
| ENST00000264318.3:c.-124G>C | ENSP00000264318.3:n.-124G>C | |
| ENST00000509316.1:n.1G>C | ||
| NM_000809.3:c.-124G>C | NP_000800.2:n.-124G>C | |
| XM_011513677.1:c.-124G>C | XP_011511979.1:n.-124G>C | |
| NM_000809.4:c.-124G>C MANE Select | NP_000800.2:n.-124G>C | |
| NM_001204266.2:c.-113G>C | NP_001191195.1:n.-113G>C | |
| NM_001204267.2:c.-113G>C | NP_001191196.1:n.-113G>C |