Linked Data
dbSNP Id:
rs775891475
ExAC:
9:37436801 C / T
gnomAD v2:
9-37436801-C-T
gnomAD v4:
9-37436804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436804C>T , CM000671.2:g.37436804C>T | GRCh38 |
| NC_000009.11:g.37436801C>T , CM000671.1:g.37436801C>T | GRCh37 |
| NC_000009.10:g.37426801C>T | NCBI36 |
| NG_008135.1:g.19095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.*22C>T MANE Select | ENSP00000313432.6:n.*22C>T | |
| ENST00000318158.10:c.*22C>T | ENSP00000313432.6:n.*22C>T | |
| ENST00000460882.5:n.1036C>T | ||
| ENST00000480596.5:n.1710C>T | ||
| ENST00000494290.1:c.*52-77C>T | ENSP00000432021.1:n.*52-77C>T | |
| ENST00000497693.1:n.4577C>T | ||
| NM_012203.1:c.*22C>T | NP_036335.1:n.*22C>T | |
| XM_005251631.1:c.*22C>T | XP_005251688.1:n.*22C>T | |
| XM_011518073.1:c.*22C>T | XP_011516375.1:n.*22C>T | |
| XM_017015320.2:c.946-607C>T | XP_016870809.1:n.946-607C>T | |
| XM_017015321.2:c.866-607C>T | XP_016870810.1:n.866-607C>T | |
| XM_017015323.2:c.544-607C>T | XP_016870812.1:n.544-607C>T | |
| XM_024447716.1:c.1219-607C>T | XP_024303484.1:n.1219-607C>T | |
| XM_024447717.1:c.1139-607C>T | XP_024303485.1:n.1139-607C>T | |
| XR_002956828.1:n.1234-607C>T | ||
| XR_002956829.1:n.1154-607C>T | ||
| XR_002956830.1:n.2429C>T | ||
| XR_002956831.1:n.2104C>T | ||
| XR_002956832.1:n.1428C>T | ||
| NM_012203.2:c.*22C>T MANE Select | NP_036335.1:n.*22C>T |