Linked Data
ClinVar Variation Id:
310817
dbSNP Id:
rs549781052
ExAC:
12:991221 A / C
gnomAD v2:
12-991221-A-C
gnomAD v3:
12-882055-A-C
gnomAD v4:
12-882055-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.882055A>C , CM000674.2:g.882055A>C | GRCh38 |
| NC_000012.11:g.991221A>C , CM000674.1:g.991221A>C | GRCh37 |
| NC_000012.10:g.861482A>C | NCBI36 |
| NG_007984.2:g.133997A>C | |
| NG_007984.3:g.133997A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.3354A>C MANE Select | ENSP00000313059.6:p.Pro1118= | |
| ENST00000340908.9:c.4110A>C MANE Plus Clinical | ENSP00000341292.5:p.Pro1370= | |
| ENST00000674810.1:n.3951A>C | ||
| ENST00000675236.1:n.2249A>C | ||
| ENST00000675631.1:c.2133A>C | ENSP00000502415.1:p.Pro711= | |
| ENST00000676347.1:c.801A>C | ENSP00000501875.1:p.Pro267= | |
| ENST00000315939.10:c.3354A>C | ENSP00000313059.6:p.Pro1118= | |
| ENST00000340908.8:c.4110A>C | ENSP00000341292.5:p.Pro1370= | |
| ENST00000530271.6:c.4593A>C | ENSP00000433548.3:p.Pro1531= | |
| ENST00000534872.1:c.171A>C | ENSP00000446253.1:p.Pro57= | |
| ENST00000535572.5:c.2613A>C | ENSP00000441972.1:p.Pro871= | |
| ENST00000537687.5:c.4134A>C | ENSP00000444465.1:p.Pro1378= | |
| ENST00000544965.5:c.583A>C | ||
| ENST00000545055.1:n.464A>C | ||
| NM_001184985.1:c.4134A>C | NP_001171914.1:p.Pro1378= | |
| NM_014823.2:c.2613A>C | NP_055638.2:p.Pro871= | |
| NM_018979.3:c.3354A>C | NP_061852.3:p.Pro1118= | |
| NM_213655.4:c.4110A>C | NP_998820.3:p.Pro1370= | |
| XM_006719003.1:c.3351A>C | XP_006719066.1:p.Pro1117= | |
| XM_011520997.1:c.4593A>C | XP_011519299.1:p.Pro1531= | |
| XM_011520998.1:c.4590A>C | XP_011519300.1:p.Pro1530= | |
| XM_011520999.1:c.4593A>C | XP_011519301.1:p.Pro1531= | |
| XM_011521000.1:c.4593A>C | XP_011519302.1:p.Pro1531= | |
| XM_011521001.1:c.4314A>C | XP_011519303.1:p.Pro1438= | |
| XM_011521002.1:c.4131A>C | XP_011519304.1:p.Pro1377= | |
| XM_011521003.1:c.3855A>C | XP_011519305.1:p.Pro1285= | |
| XM_011521004.1:c.3852A>C | XP_011519306.1:p.Pro1284= | |
| XM_011521005.1:c.3372A>C | XP_011519307.1:p.Pro1124= | |
| XM_011521006.1:c.3270A>C | XP_011519308.1:p.Pro1090= | |
| XM_011521007.1:c.3267A>C | XP_011519309.1:p.Pro1089= | |
| XM_011521008.1:c.2532A>C | XP_011519310.1:p.Pro844= | |
| XM_011521009.1:c.2529A>C | XP_011519311.1:p.Pro843= | |
| XM_006719003.2:c.3351A>C | XP_006719066.1:p.Pro1117= | |
| XM_011520997.3:c.4593A>C | XP_011519299.1:p.Pro1531= | |
| XM_011520998.2:c.4590A>C | XP_011519300.1:p.Pro1530= | |
| XM_011520999.2:c.4593A>C | XP_011519301.1:p.Pro1531= | |
| XM_011521000.2:c.4593A>C | XP_011519302.1:p.Pro1531= | |
| XM_011521001.2:c.4314A>C | XP_011519303.1:p.Pro1438= | |
| XM_011521002.2:c.4131A>C | XP_011519304.1:p.Pro1377= | |
| XM_011521003.2:c.3855A>C | XP_011519305.1:p.Pro1285= | |
| XM_011521004.2:c.3852A>C | XP_011519306.1:p.Pro1284= | |
| XM_011521005.2:c.3372A>C | XP_011519307.1:p.Pro1124= | |
| XM_011521006.2:c.3270A>C | XP_011519308.1:p.Pro1090= | |
| XM_011521007.2:c.3267A>C | XP_011519309.1:p.Pro1089= | |
| XM_011521008.2:c.2532A>C | XP_011519310.1:p.Pro844= | |
| XM_011521009.2:c.2529A>C | XP_011519311.1:p.Pro843= | |
| XM_017019834.1:c.2892A>C | XP_016875323.1:p.Pro964= | |
| XM_017019835.1:c.2811A>C | XP_016875324.1:p.Pro937= | |
| XM_017019836.1:c.2808A>C | XP_016875325.1:p.Pro936= | |
| XM_017019837.1:c.2616A>C | XP_016875326.1:p.Pro872= | |
| XM_017019838.1:c.2613A>C | XP_016875327.1:p.Pro871= | |
| XM_017019839.1:c.2532A>C | XP_016875328.1:p.Pro844= | |
| NM_018979.4:c.3354A>C MANE Select | NP_061852.3:p.Pro1118= | |
| NM_014823.3:c.2613A>C | NP_055638.2:p.Pro871= | |
| NM_001184985.2:c.4134A>C | NP_001171914.1:p.Pro1378= | |
| NM_213655.5:c.4110A>C MANE Plus Clinical | NP_998820.3:p.Pro1370= |