Linked Data
dbSNP Id:
rs145814989
gnomAD v2:
6-138868166-G-A
gnomAD v3:
6-138547029-G-A
gnomAD v4:
6-138547029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138547029G>A , CM000668.2:g.138547029G>A | GRCh38 |
| NC_000006.11:g.138868166G>A , CM000668.1:g.138868166G>A | GRCh37 |
| NC_000006.10:g.138909859G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427025.6:c.202+24681C>T | ENSP00000394546.2:n.202+24681C>T | |
| ENST00000491526.6:c.97-50658C>T | ||
| NM_020464.1:c.202+24681C>T | NP_065197.1:n.202+24681C>T | |
| XM_005267062.3:c.202+24681C>T | XP_005267119.1:n.202+24681C>T | |
| XM_011535965.1:c.202+24681C>T | XP_011534267.1:n.202+24681C>T | |
| XM_011535966.1:c.202+24681C>T | XP_011534268.1:n.202+24681C>T | |
| XM_011535967.1:c.202+24681C>T | XP_011534269.1:n.202+24681C>T | |
| XM_011535968.1:c.202+24681C>T | XP_011534270.1:n.202+24681C>T | |
| XM_011535976.1:c.-170-50658C>T | XP_011534278.1:n.-170-50658C>T | |
| XM_005267062.5:c.202+24681C>T | XP_005267119.1:n.202+24681C>T | |
| XM_011535966.3:c.202+24681C>T | XP_011534268.1:n.202+24681C>T | |
| XM_011535967.3:c.202+24681C>T | XP_011534269.1:n.202+24681C>T | |
| XM_011535968.3:c.202+24681C>T | XP_011534270.1:n.202+24681C>T | |
| XM_017011086.2:c.202+24681C>T | XP_016866575.1:n.202+24681C>T | |
| XM_017011087.1:c.97+23689C>T | XP_016866576.1:n.97+23689C>T | |
| XM_024446497.1:c.-419-50658C>T | XP_024302265.1:n.-419-50658C>T | |
| NM_020464.2:c.202+24681C>T | NP_065197.1:n.202+24681C>T |