Linked Data
ClinVar Variation Id:
2887493
ClinVar RCV Id:
RCV003722390
dbSNP Id:
rs114897742
ExAC:
6:45514889 G / T
gnomAD v2:
6-45514889-G-T
gnomAD v3:
6-45547152-G-T
gnomAD v4:
6-45547152-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547152G>T , CM000668.2:g.45547152G>T | GRCh38 |
| NC_000006.11:g.45514889G>T , CM000668.1:g.45514889G>T | GRCh37 |
| NC_000006.10:g.45622867G>T | NCBI36 |
| NG_008020.1:g.223836G>T | |
| NG_008020.2:g.223836G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*570G>T | ENSP00000496517.1:n.*570G>T | |
| ENST00000647337.2:c.1413G>T MANE Select | ENSP00000495497.1:p.Pro471= | |
| ENST00000359524.7:c.1371G>T | ENSP00000352514.5:p.Pro457= | |
| ENST00000371432.7:c.1347G>T | ENSP00000360486.4:p.Pro449= | |
| ENST00000371436.10:c.1347G>T | ENSP00000360491.6:p.Pro449= | |
| ENST00000371438.5:c.1413G>T | ENSP00000360493.1:p.Pro471= | |
| ENST00000465038.6:c.1413G>T | ENSP00000420707.2:p.Pro471= | |
| ENST00000478660.6:c.*178+33499G>T | ENSP00000460188.1:n.*178+33499G>T | |
| ENST00000483377.5:c.*934G>T | ENSP00000461357.1:n.*934G>T | |
| ENST00000576263.5:c.1021+34745G>T | ENSP00000458178.1:n.1021+34745G>T | |
| ENST00000625924.1:c.1305G>T | ENSP00000485863.1:p.Pro435= | |
| NM_001015051.3:c.1347G>T | NP_001015051.3:p.Pro449= | |
| NM_001024630.3:c.1413G>T | NP_001019801.3:p.Pro471= | |
| NM_001278478.1:c.1305G>T | NP_001265407.1:p.Pro435= | |
| XM_006715232.1:c.1197G>T | XP_006715295.1:p.Pro399= | |
| XM_011514960.1:c.1225+34745G>T | XP_011513262.1:n.1225+34745G>T | |
| XM_011514961.1:c.1617G>T | XP_011513263.1:p.Pro539= | |
| XM_011514962.1:c.1551G>T | XP_011513264.1:p.Pro517= | |
| XM_011514963.1:c.1051+34745G>T | XP_011513265.1:n.1051+34745G>T | |
| XM_011514964.1:c.1435+182G>T | XP_011513266.1:n.1435+182G>T | |
| XM_011514966.1:c.553+34745G>T | XP_011513268.1:n.553+34745G>T | |
| NM_001024630.4:c.1413G>T MANE Select | NP_001019801.3:p.Pro471= | |
| NM_001278478.2:c.1305G>T | NP_001265407.1:p.Pro435= | |
| NM_001369405.1:c.1371G>T | NP_001356334.1:p.Pro457= | |
| NM_001015051.4:c.1347G>T | NP_001015051.3:p.Pro449= |