Linked Data
ClinVar Variation Id:
2152539
ClinVar RCV Id:
RCV003079342
dbSNP Id:
rs892546343
gnomAD v2:
4-88929491-G-T
gnomAD v3:
4-88008339-G-T
gnomAD v4:
4-88008339-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008339G>T , CM000666.2:g.88008339G>T | GRCh38 |
| NC_000004.11:g.88929491G>T , CM000666.1:g.88929491G>T | GRCh37 |
| NC_000004.10:g.89148515G>T | NCBI36 |
| NG_008604.1:g.5672G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+11G>T MANE Select | ENSP00000237596.2:n.595+11G>T | |
| ENST00000237596.6:c.595+11G>T | ENSP00000237596.2:n.595+11G>T | |
| ENST00000506727.1:n.97+11G>T | ||
| NM_000297.3:c.595+11G>T | NP_000288.1:n.595+11G>T | |
| XM_011532028.1:c.595+11G>T | XP_011530330.1:n.595+11G>T | |
| XR_244632.2:n.690+11G>T | ||
| NR_156488.1:n.682+11G>T | ||
| XM_011532028.2:c.595+11G>T | XP_011530330.1:n.595+11G>T | |
| NM_000297.4:c.595+11G>T MANE Select | NP_000288.1:n.595+11G>T | |
| NR_156488.2:n.694+11G>T |