Linked Data
ClinVar Variation Id:
226498
dbSNP Id:
rs368122233
ExAC:
10:73548747 C / G
gnomAD v2:
10-73548747-C-G
gnomAD v3:
10-71788990-C-G
gnomAD v4:
10-71788990-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71788990C>G , CM000672.2:g.71788990C>G | GRCh38 |
| NC_000010.10:g.73548747C>G , CM000672.1:g.73548747C>G | GRCh37 |
| NC_000010.9:g.73218753C>G | NCBI36 |
| NG_008835.1:g.397044C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5871C>G MANE Select | ENSP00000224721.9:p.Pro1957= | |
| ENST00000224721.10:c.5886C>G | ENSP00000224721.8:p.Pro1962= | |
| ENST00000622827.4:c.5871C>G | ENSP00000483211.1:p.Pro1957= | |
| NM_022124.5:c.5871C>G | NP_071407.4:p.Pro1957= | |
| XM_006717940.2:c.6066C>G | XP_006718003.1:p.Pro2022= | |
| XM_006717942.2:c.6000C>G | XP_006718005.1:p.Pro2000= | |
| XM_011540039.1:c.6063C>G | XP_011538341.1:p.Pro2021= | |
| XM_011540040.1:c.6060C>G | XP_011538342.1:p.Pro2020= | |
| XM_011540041.1:c.6006C>G | XP_011538343.1:p.Pro2002= | |
| XM_011540042.1:c.6066C>G | XP_011538344.1:p.Pro2022= | |
| XM_011540043.1:c.6066C>G | XP_011538345.1:p.Pro2022= | |
| XM_011540044.1:c.5931C>G | XP_011538346.1:p.Pro1977= | |
| XM_011540045.1:c.6066C>G | XP_011538347.1:p.Pro2022= | |
| XM_011540046.1:c.5526C>G | XP_011538348.1:p.Pro1842= | |
| XM_011540047.1:c.4884C>G | XP_011538349.1:p.Pro1628= | |
| XM_011540048.1:c.6066C>G | XP_011538350.1:p.Pro2022= | |
| XM_011540049.1:c.6066C>G | XP_011538351.1:p.Pro2022= | |
| XM_011540050.1:c.6066C>G | XP_011538352.1:p.Pro2022= | |
| XM_011540051.1:c.6066C>G | XP_011538353.1:p.Pro2022= | |
| XM_011540052.1:c.2394C>G | XP_011538354.1:p.Pro798= | |
| XM_011540053.1:c.6066C>G | XP_011538355.1:p.Pro2022= | |
| XR_945796.1:n.6309C>G | ||
| NM_022124.6:c.5871C>G MANE Select | NP_071407.4:p.Pro1957= |