Linked Data
ClinVar Variation Id:
1298229
ClinVar RCV Id:
RCV001725736
dbSNP Id:
rs2855442
gnomAD v2:
6-33137403-C-T
gnomAD v3:
6-33169626-C-T
gnomAD v4:
6-33169626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33169626C>T , CM000668.2:g.33169626C>T | GRCh38 |
| NC_000006.11:g.33137403C>T , CM000668.1:g.33137403C>T | GRCh37 |
| NC_000006.10:g.33245381C>T | NCBI36 |
| NG_011589.1:g.27843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3691-136G>A MANE Select | ENSP00000339915.2:n.3691-136G>A | |
| ENST00000341947.6:c.3691-136G>A | ENSP00000339915.2:n.3691-136G>A | |
| ENST00000361917.5:c.3370-136G>A | ENSP00000355123.1:n.3370-136G>A | |
| ENST00000374708.8:c.3433-136G>A | ENSP00000363840.4:n.3433-136G>A | |
| ENST00000477772.1:n.273-3810G>A | ||
| NM_080679.2:c.3370-136G>A | NP_542410.2:n.3370-136G>A | |
| NM_080680.2:c.3691-136G>A | NP_542411.2:n.3691-136G>A | |
| NM_080681.2:c.3433-136G>A | NP_542412.2:n.3433-136G>A | |
| XM_011514298.1:c.2845-136G>A | XP_011512600.1:n.2845-136G>A | |
| XM_011514299.1:c.2977-136G>A | XP_011512601.1:n.2977-136G>A | |
| XM_011514300.1:c.2797-136G>A | XP_011512602.1:n.2797-136G>A | |
| XM_011514301.1:c.2734-136G>A | XP_011512603.1:n.2734-136G>A | |
| XM_011514302.1:c.2578-136G>A | XP_011512604.1:n.2578-136G>A | |
| XM_011514299.2:c.2977-136G>A | XP_011512601.1:n.2977-136G>A | |
| XM_011514300.2:c.2797-136G>A | XP_011512602.1:n.2797-136G>A | |
| XM_011514302.2:c.2578-136G>A | XP_011512604.1:n.2578-136G>A | |
| XM_017010250.1:c.3691-136G>A | XP_016865739.1:n.3691-136G>A | |
| XM_017010251.2:c.2509-136G>A | XP_016865740.1:n.2509-136G>A | |
| NM_080680.3:c.3691-136G>A MANE Select | NP_542411.2:n.3691-136G>A | |
| NM_080681.3:c.3433-136G>A | NP_542412.2:n.3433-136G>A | |
| NM_080679.3:c.3370-136G>A | NP_542410.2:n.3370-136G>A |