Linked Data
ClinVar Variation Id:
771336
ClinVar RCV Id:
RCV000950640
dbSNP Id:
rs76666665
ExAC:
2:96697823 G / A
gnomAD v2:
2-96697823-G-A
gnomAD v3:
2-96032075-G-A
gnomAD v4:
2-96032075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96032075G>A , CM000664.2:g.96032075G>A | GRCh38 |
| NC_000002.11:g.96697823G>A , CM000664.1:g.96697823G>A | GRCh37 |
| NC_000002.10:g.96061550G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434632.6:c.135C>T MANE Select | ENSP00000389395.2:p.Pro45= | |
| ENST00000687910.1:c.135C>T | ENSP00000509192.1:p.Pro45= | |
| ENST00000691940.1:c.135C>T | ENSP00000509624.1:p.Pro45= | |
| ENST00000359548.8:c.135C>T | ENSP00000352547.4:p.Pro45= | |
| ENST00000434632.5:c.135C>T | ENSP00000389395.1:p.Pro45= | |
| ENST00000439254.1:c.135C>T | ENSP00000401334.1:p.Pro45= | |
| ENST00000453542.5:c.135C>T | ENSP00000393770.1:p.Pro45= | |
| ENST00000468438.1:n.299C>T | ||
| ENST00000471757.5:n.270C>T | ||
| ENST00000484440.5:n.263C>T | ||
| ENST00000486463.5:n.204C>T | ||
| NM_207328.2:c.135C>T | NP_997211.2:p.Pro45= | |
| XM_005263882.2:c.135C>T | XP_005263939.1:p.Pro45= | |
| XM_005263884.1:c.135C>T | XP_005263941.1:p.Pro45= | |
| XM_005263888.2:c.135C>T | XP_005263945.1:p.Pro45= | |
| XM_006712302.2:c.135C>T | XP_006712365.1:p.Pro45= | |
| XM_006712303.2:c.135C>T | XP_006712366.1:p.Pro45= | |
| XM_006712304.2:c.135C>T | XP_006712367.1:p.Pro45= | |
| XM_006712305.2:c.135C>T | XP_006712368.1:p.Pro45= | |
| XM_006712306.2:c.135C>T | XP_006712369.1:p.Pro45= | |
| XM_006712307.2:c.135C>T | XP_006712370.1:p.Pro45= | |
| XM_006712308.2:c.135C>T | XP_006712371.1:p.Pro45= | |
| XM_006712309.1:c.135C>T | XP_006712372.1:p.Pro45= | |
| XM_006712310.1:c.135C>T | XP_006712373.1:p.Pro45= | |
| XM_006712311.2:c.135C>T | XP_006712374.1:p.Pro45= | |
| XM_006712312.2:c.135C>T | XP_006712375.1:p.Pro45= | |
| XM_006712313.2:c.135C>T | XP_006712376.1:p.Pro45= | |
| XM_006712315.2:c.135C>T | XP_006712378.1:p.Pro45= | |
| NM_001321525.1:c.135C>T | NP_001308454.1:p.Pro45= | |
| NM_001321526.1:c.135C>T | NP_001308455.1:p.Pro45= | |
| NM_001321527.1:c.135C>T | NP_001308456.1:p.Pro45= | |
| NM_001321528.1:c.135C>T | NP_001308457.1:p.Pro45= | |
| NM_001321529.1:c.135C>T | NP_001308458.1:p.Pro45= | |
| NM_001321530.1:c.135C>T | NP_001308459.1:p.Pro45= | |
| NM_001321531.1:c.135C>T | NP_001308460.1:p.Pro45= | |
| NM_207328.3:c.135C>T | NP_997211.2:p.Pro45= | |
| XM_005263888.4:c.135C>T | XP_005263945.1:p.Pro45= | |
| XM_006712308.4:c.135C>T | XP_006712371.1:p.Pro45= | |
| XM_006712311.4:c.135C>T | XP_006712374.1:p.Pro45= | |
| XM_006712312.4:c.135C>T | XP_006712375.1:p.Pro45= | |
| XM_006712313.4:c.135C>T | XP_006712376.1:p.Pro45= | |
| XM_017003424.1:c.135C>T | XP_016858913.1:p.Pro45= | |
| XM_017003425.2:c.135C>T | XP_016858914.1:p.Pro45= | |
| XM_017003426.2:c.135C>T | XP_016858915.1:p.Pro45= | |
| NM_001321525.2:c.135C>T | NP_001308454.1:p.Pro45= | |
| NM_001321526.2:c.135C>T | NP_001308455.1:p.Pro45= | |
| NM_001321527.2:c.135C>T MANE Select | NP_001308456.1:p.Pro45= | |
| NM_001321528.2:c.135C>T | NP_001308457.1:p.Pro45= | |
| NM_001321529.2:c.135C>T | NP_001308458.1:p.Pro45= | |
| NM_001321530.2:c.135C>T | NP_001308459.1:p.Pro45= | |
| NM_001321531.2:c.135C>T | NP_001308460.1:p.Pro45= | |
| NM_001389639.1:c.135C>T | NP_001376568.1:p.Pro45= | |
| NM_207328.4:c.135C>T | NP_997211.2:p.Pro45= |