Linked Data
dbSNP Id:
rs147768642
gnomAD v2:
6-162864287-G-A
gnomAD v3:
6-162443255-G-A
gnomAD v4:
6-162443255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162443255G>A , CM000668.2:g.162443255G>A | GRCh38 |
| NC_000006.11:g.162864287G>A , CM000668.1:g.162864287G>A | GRCh37 |
| NC_000006.10:g.162784277G>A | NCBI36 |
| NG_008289.1:g.289548C>T | |
| NG_008289.2:g.289548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.171+55C>T | ENSP00000343589.4:n.171+55C>T | |
| ENST00000366894.6:c.171+55C>T | ENSP00000355860.2:n.171+55C>T | |
| ENST00000366898.6:c.171+55C>T MANE Select | ENSP00000355865.1:n.171+55C>T | |
| ENST00000673871.1:c.166+55C>T | ||
| ENST00000674232.1:n.189+55C>T | ||
| ENST00000674259.1:n.228+55C>T | ||
| ENST00000674493.1:n.188+55C>T | ||
| ENST00000674501.1:n.278+55C>T | ||
| ENST00000338468.7:c.-281+55C>T | ENSP00000343589.3:n.-281+55C>T | |
| ENST00000366892.5:c.171+55C>T | ENSP00000355858.1:n.171+55C>T | |
| ENST00000366894.5:c.-162+55C>T | ENSP00000355860.1:n.-162+55C>T | |
| ENST00000366896.5:c.171+55C>T | ENSP00000355862.1:n.171+55C>T | |
| ENST00000366897.5:c.171+55C>T | ENSP00000355863.1:n.171+55C>T | |
| ENST00000366898.5:c.171+55C>T | ENSP00000355865.1:n.171+55C>T | |
| ENST00000479615.5:c.-66-180490C>T | ENSP00000434414.1:n.-66-180490C>T | |
| NM_004562.2:c.171+55C>T | NP_004553.2:n.171+55C>T | |
| NM_013987.2:c.171+55C>T | NP_054642.2:n.171+55C>T | |
| NM_013988.2:c.171+55C>T | NP_054643.2:n.171+55C>T | |
| XM_011535863.1:c.171+55C>T | XP_011534165.1:n.171+55C>T | |
| XM_011535864.1:c.171+55C>T | XP_011534166.1:n.171+55C>T | |
| XM_011535865.1:c.171+55C>T | XP_011534167.1:n.171+55C>T | |
| XM_011535866.1:c.171+55C>T | XP_011534168.1:n.171+55C>T | |
| XM_011535867.1:c.171+55C>T | XP_011534169.1:n.171+55C>T | |
| XM_017010908.1:c.285+55C>T | XP_016866397.1:n.285+55C>T | |
| XM_017010909.2:c.-66-180490C>T | XP_016866398.1:n.-66-180490C>T | |
| XM_024446449.1:c.-66-180490C>T | XP_024302217.1:n.-66-180490C>T | |
| XR_001743443.2:n.277+55C>T | ||
| NM_004562.3:c.171+55C>T MANE Select | NP_004553.2:n.171+55C>T | |
| NM_013987.3:c.171+55C>T | NP_054642.2:n.171+55C>T | |
| NM_013988.3:c.171+55C>T | NP_054643.2:n.171+55C>T |