Linked Data
ClinVar Variation Id:
329512
dbSNP Id:
rs886054497
gnomAD v2:
19-45860603-G-A
gnomAD v4:
19-45357345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45357345G>A , CM000681.2:g.45357345G>A | GRCh38 |
| NC_000019.9:g.45860603G>A , CM000681.1:g.45860603G>A | GRCh37 |
| NC_000019.8:g.50552443G>A | NCBI36 |
| NG_007067.2:g.18243C>T , LRG_461:g.18243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1404C>T | ENSP00000375808.4:p.Pro468= | |
| ENST00000682414.1:c.1404C>T | ENSP00000507019.1:p.Pro468= | |
| ENST00000682508.1:n.1433C>T | ||
| ENST00000684218.1:c.*662C>T | ENSP00000507804.1:n.*662C>T | |
| ENST00000684264.1:n.960C>T | ||
| ENST00000684407.1:c.1281C>T | ENSP00000507775.1:p.Pro427= | |
| ENST00000684458.1:c.1334C>T | ENSP00000508260.1:p.Pro445Leu | |
| ENST00000684468.1:n.1180C>T | ||
| ENST00000391945.10:c.1404C>T MANE Select | ENSP00000375809.4:p.Pro468= | |
| ENST00000587376.6:c.527C>T | ||
| ENST00000646507.1:n.1501C>T | ||
| ENST00000391941.6:c.1332C>T | ENSP00000375805.2:p.Pro444= | |
| ENST00000391942.6:n.575C>T | ||
| ENST00000391944.7:c.1170C>T | ENSP00000375808.3:p.Pro390= | |
| ENST00000391945.8:c.1404C>T | ENSP00000375809.3:p.Pro468= | |
| ENST00000587376.5:c.527C>T | ||
| ENST00000588652.5:n.1492C>T | ||
| NM_000400.3:c.1404C>T , LRG_461t1:c.1404C>T | NP_000391.1:p.Pro468= | |
| XM_011526611.1:c.1326C>T | XP_011524913.1:p.Pro442= | |
| XR_935763.1:n.1451C>T | ||
| XM_011526611.2:c.1326C>T | XP_011524913.1:p.Pro442= | |
| XM_017026467.1:c.1281C>T | XP_016881956.1:p.Pro427= | |
| XR_001753633.2:n.1451C>T | ||
| XR_001753634.2:n.1451C>T | ||
| NM_000400.4:c.1404C>T MANE Select | NP_000391.1:p.Pro468= |