Linked Data
dbSNP Id:
rs1473399490
gnomAD v3:
1-149955020-G-A
gnomAD v4:
1-149955020-G-A
MyVariant Identifiers:
chr1:g.149955020G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149955020G>A , CM000663.2:g.149955020G>A | GRCh38 |
| NC_000001.10:g.149926932G>A , CM000663.1:g.149926932G>A | GRCh37 |
| NC_000001.9:g.148193556G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581312.6:c.845+4664C>T MANE Select | ENSP00000462729.1:n.845+4664C>T | |
| ENST00000417191.2:c.845+4664C>T | ENSP00000408231.1:n.845+4664C>T | |
| ENST00000581312.5:c.845+4664C>T | ENSP00000462729.1:n.845+4664C>T | |
| NM_020205.3:c.845+4664C>T | NP_064590.2:n.845+4664C>T | |
| XM_011509782.1:c.845+4664C>T | XP_011508084.1:n.845+4664C>T | |
| XM_011509783.1:c.845+4664C>T | XP_011508085.1:n.845+4664C>T | |
| XM_011509784.1:c.845+4664C>T | XP_011508086.1:n.845+4664C>T | |
| XM_011509785.1:c.845+4664C>T | XP_011508087.1:n.845+4664C>T | |
| XM_011509786.1:c.608+4664C>T | XP_011508088.1:n.608+4664C>T | |
| XM_011509787.1:c.608+4664C>T | XP_011508089.1:n.608+4664C>T | |
| XM_011509788.1:c.608+4664C>T | XP_011508090.1:n.608+4664C>T | |
| XM_011509784.3:c.845+4664C>T | XP_011508086.1:n.845+4664C>T | |
| XM_011509785.2:c.845+4664C>T | XP_011508087.1:n.845+4664C>T | |
| XM_011509788.2:c.608+4664C>T | XP_011508090.1:n.608+4664C>T | |
| XM_017001850.1:c.608+4664C>T | XP_016857339.1:n.608+4664C>T | |
| XM_017001851.2:c.458+4664C>T | XP_016857340.1:n.458+4664C>T | |
| XM_024448516.1:c.458+4664C>T | XP_024304284.1:n.458+4664C>T | |
| NM_020205.4:c.845+4664C>T MANE Select | NP_064590.2:n.845+4664C>T |