Linked Data
dbSNP Id:
rs770480787
ExAC:
3:47889637 A / C
gnomAD v2:
3-47889637-A-C
gnomAD v3:
3-47848147-A-C
gnomAD v4:
3-47848147-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47848147A>C , CM000665.2:g.47848147A>C | GRCh38 |
| NC_000003.11:g.47889637A>C , CM000665.1:g.47889637A>C | GRCh37 |
| NC_000003.10:g.47864641A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445061.6:c.2287-33A>C MANE Select | ENSP00000405620.1:n.2287-33A>C | |
| ENST00000348968.8:c.2203-33A>C | ENSP00000343442.4:n.2203-33A>C | |
| ENST00000395745.6:c.*2187-33A>C | ENSP00000379094.2:n.*2187-33A>C | |
| ENST00000445061.5:c.2287-33A>C | ENSP00000405620.1:n.2287-33A>C | |
| ENST00000446256.6:c.2287-33A>C | ENSP00000392601.3:n.2287-33A>C | |
| ENST00000457607.1:c.2371-33A>C | ENSP00000394682.1:n.2371-33A>C | |
| ENST00000474183.1:n.371A>C | ||
| ENST00000619982.4:c.2170-33A>C | ENSP00000483160.1:n.2170-33A>C | |
| NM_014966.3:c.2170-33A>C | NP_055781.2:n.2170-33A>C | |
| NM_138615.2:c.2287-33A>C | NP_619520.1:n.2287-33A>C | |
| XM_006713033.1:c.2191-33A>C | XP_006713096.1:n.2191-33A>C | |
| XM_011533490.1:c.2500-33A>C | XP_011531792.1:n.2500-33A>C | |
| XM_011533491.1:c.2500-33A>C | XP_011531793.1:n.2500-33A>C | |
| XM_011533492.1:c.2500-33A>C | XP_011531794.1:n.2500-33A>C | |
| XM_011533493.1:c.2389-33A>C | XP_011531795.1:n.2389-33A>C | |
| XM_011533494.1:c.2287-33A>C | XP_011531796.1:n.2287-33A>C | |
| XM_011533495.1:c.2287-33A>C | XP_011531797.1:n.2287-33A>C | |
| XM_011533496.1:c.2203-33A>C | XP_011531798.1:n.2203-33A>C | |
| XM_011533497.1:c.2203-33A>C | XP_011531799.1:n.2203-33A>C | |
| XM_011533498.1:c.2203-33A>C | XP_011531800.1:n.2203-33A>C | |
| NM_001330990.1:c.2203-33A>C | NP_001317919.1:n.2203-33A>C | |
| XM_011533490.2:c.2500-33A>C | XP_011531792.1:n.2500-33A>C | |
| XM_011533494.3:c.2287-33A>C | XP_011531796.1:n.2287-33A>C | |
| XM_011533495.2:c.2287-33A>C | XP_011531797.1:n.2287-33A>C | |
| XM_011533497.2:c.2203-33A>C | XP_011531799.1:n.2203-33A>C | |
| XM_017005914.1:c.2419-33A>C | XP_016861403.1:n.2419-33A>C | |
| XM_017005915.1:c.2191-33A>C | XP_016861404.1:n.2191-33A>C | |
| XM_017005916.2:c.2176-33A>C | XP_016861405.1:n.2176-33A>C | |
| XM_017005917.1:c.2170-33A>C | XP_016861406.1:n.2170-33A>C | |
| XM_024453405.1:c.2389-33A>C | XP_024309173.1:n.2389-33A>C | |
| NM_138615.3:c.2287-33A>C MANE Select | NP_619520.1:n.2287-33A>C | |
| NM_001330990.2:c.2203-33A>C | NP_001317919.1:n.2203-33A>C | |
| NM_014966.4:c.2170-33A>C | NP_055781.2:n.2170-33A>C |