Linked Data
dbSNP Id:
rs12048493
gnomAD v2:
1-149927034-A-C
gnomAD v3:
1-149955122-A-C
gnomAD v4:
1-149955122-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149955122A>C , CM000663.2:g.149955122A>C | GRCh38 |
| NC_000001.10:g.149927034A>C , CM000663.1:g.149927034A>C | GRCh37 |
| NC_000001.9:g.148193658A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581312.6:c.845+4562T>G MANE Select | ENSP00000462729.1:n.845+4562T>G | |
| ENST00000417191.2:c.845+4562T>G | ENSP00000408231.1:n.845+4562T>G | |
| ENST00000581312.5:c.845+4562T>G | ENSP00000462729.1:n.845+4562T>G | |
| NM_020205.3:c.845+4562T>G | NP_064590.2:n.845+4562T>G | |
| XM_011509782.1:c.845+4562T>G | XP_011508084.1:n.845+4562T>G | |
| XM_011509783.1:c.845+4562T>G | XP_011508085.1:n.845+4562T>G | |
| XM_011509784.1:c.845+4562T>G | XP_011508086.1:n.845+4562T>G | |
| XM_011509785.1:c.845+4562T>G | XP_011508087.1:n.845+4562T>G | |
| XM_011509786.1:c.608+4562T>G | XP_011508088.1:n.608+4562T>G | |
| XM_011509787.1:c.608+4562T>G | XP_011508089.1:n.608+4562T>G | |
| XM_011509788.1:c.608+4562T>G | XP_011508090.1:n.608+4562T>G | |
| XM_011509784.3:c.845+4562T>G | XP_011508086.1:n.845+4562T>G | |
| XM_011509785.2:c.845+4562T>G | XP_011508087.1:n.845+4562T>G | |
| XM_011509788.2:c.608+4562T>G | XP_011508090.1:n.608+4562T>G | |
| XM_017001850.1:c.608+4562T>G | XP_016857339.1:n.608+4562T>G | |
| XM_017001851.2:c.458+4562T>G | XP_016857340.1:n.458+4562T>G | |
| XM_024448516.1:c.458+4562T>G | XP_024304284.1:n.458+4562T>G | |
| NM_020205.4:c.845+4562T>G MANE Select | NP_064590.2:n.845+4562T>G |