Linked Data
dbSNP Id:
rs73148341
gnomAD v2:
4-52893933-T-C
gnomAD v3:
4-52027767-T-C
gnomAD v4:
4-52027767-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027767T>C , CM000666.2:g.52027767T>C | GRCh38 |
| NC_000004.11:g.52893933T>C , CM000666.1:g.52893933T>C | GRCh37 |
| NC_000004.10:g.52588690T>C | NCBI36 |
| NG_008891.1:g.15553A>G , LRG_204:g.15553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.753+201A>G MANE Select | ENSP00000370839.6:n.753+201A>G | |
| ENST00000381431.9:c.753+201A>G | ENSP00000370839.5:n.753+201A>G | |
| NM_000232.4:c.753+201A>G , LRG_204t1:c.753+201A>G | NP_000223.1:n.753+201A>G | |
| XM_006714049.2:c.456+201A>G | XP_006714112.1:n.456+201A>G | |
| XM_011534403.1:c.543+201A>G | XP_011532705.1:n.543+201A>G | |
| XM_011534404.1:c.456+201A>G | XP_011532706.1:n.456+201A>G | |
| NM_000232.5:c.753+201A>G MANE Select | NP_000223.1:n.753+201A>G |