Linked Data
dbSNP Id:
rs772796753
ExAC:
9:37436625 T / TTA
gnomAD v2:
9-37436625-T-TTA
gnomAD v3:
9-37436628-T-TTA
gnomAD v4:
9-37436628-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436630_37436631dup , CM000671.2:g.37436630_37436631dup | GRCh38 |
| NC_000009.11:g.37436627_37436628dup , CM000671.1:g.37436627_37436628dup | GRCh37 |
| NC_000009.10:g.37426627_37426628dup | NCBI36 |
| NG_008135.1:g.18921_18922dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.866-31_866-30dup MANE Select | ENSP00000313432.6:n.866-31_866-30dup | |
| ENST00000318158.10:c.866-31_866-30dup | ENSP00000313432.6:n.866-31_866-30dup | |
| ENST00000460882.5:n.893-31_893-30dup | ||
| ENST00000480596.5:n.1567-31_1567-30dup | ||
| ENST00000491488.5:n.571-31_571-30dup | ||
| ENST00000494290.1:c.*52-251_*52-250dup | ENSP00000432021.1:n.*52-251_*52-250dup | |
| ENST00000497693.1:n.4434-31_4434-30dup | ||
| NM_012203.1:c.866-31_866-30dup | NP_036335.1:n.866-31_866-30dup | |
| XM_005251631.1:c.545-31_545-30dup | XP_005251688.1:n.545-31_545-30dup | |
| XM_011518073.1:c.464-31_464-30dup | XP_011516375.1:n.464-31_464-30dup | |
| XM_017015320.2:c.946-781_946-780dup | XP_016870809.1:n.946-781_946-780dup | |
| XM_017015321.2:c.866-781_866-780dup | XP_016870810.1:n.866-781_866-780dup | |
| XM_017015323.2:c.544-781_544-780dup | XP_016870812.1:n.544-781_544-780dup | |
| XM_024447716.1:c.1219-781_1219-780dup | XP_024303484.1:n.1219-781_1219-780dup | |
| XM_024447717.1:c.1139-781_1139-780dup | XP_024303485.1:n.1139-781_1139-780dup | |
| XR_002956828.1:n.1234-781_1234-780dup | ||
| XR_002956829.1:n.1154-781_1154-780dup | ||
| XR_002956830.1:n.2286-31_2286-30dup | ||
| XR_002956831.1:n.1961-31_1961-30dup | ||
| XR_002956832.1:n.1285-31_1285-30dup | ||
| NM_012203.2:c.866-31_866-30dup MANE Select | NP_036335.1:n.866-31_866-30dup |