Linked Data
dbSNP Id:
rs4146185
ExAC:
5:135510033 T / A
gnomAD v2:
5-135510033-T-A
gnomAD v3:
5-136174344-T-A
gnomAD v4:
5-136174344-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136174344T>A , CM000667.2:g.136174344T>A | GRCh38 |
| NC_000005.9:g.135510033T>A , CM000667.1:g.135510033T>A | GRCh37 |
| NC_000005.8:g.135537932T>A | NCBI36 |
| NG_032037.1:g.46498T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509297.6:c.998-32T>A | ENSP00000426696.2:n.998-32T>A | |
| ENST00000545279.6:c.998-32T>A MANE Select | ENSP00000441954.2:n.998-32T>A | |
| ENST00000514777.1:n.282-32T>A | ||
| ENST00000545279.5:c.998-32T>A | ENSP00000441954.2:n.998-32T>A | |
| ENST00000545620.5:c.998-32T>A | ENSP00000446474.2:n.998-32T>A | |
| NM_001001419.2:c.998-32T>A | NP_001001419.1:n.998-32T>A | |
| NM_001001420.2:c.998-32T>A | NP_001001420.1:n.998-32T>A | |
| NM_005903.6:c.998-32T>A | NP_005894.3:n.998-32T>A | |
| XM_017009470.2:c.998-32T>A | XP_016864959.1:n.998-32T>A | |
| XM_024446046.1:c.998-32T>A | XP_024301814.1:n.998-32T>A | |
| XM_024446047.1:c.998-32T>A | XP_024301815.1:n.998-32T>A | |
| NM_005903.7:c.998-32T>A MANE Select | NP_005894.3:n.998-32T>A | |
| NM_001001419.3:c.998-32T>A | NP_001001419.1:n.998-32T>A | |
| NM_001001420.3:c.998-32T>A | NP_001001420.1:n.998-32T>A |