gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3141904G>A , CM000680.2:g.3141904G>A | GRCh38 |
| NC_000018.9:g.3141902G>A , CM000680.1:g.3141902G>A | GRCh37 |
| NC_000018.8:g.3131902G>A | NCBI36 |
| NG_032120.1:g.83205C>T , LRG_426:g.83205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356443.9:c.2025+35C>T MANE Select | ENSP00000348821.4:n.2025+35C>T | |
| ENST00000261606.11:c.2025+35C>T | ENSP00000261606.7:n.2025+35C>T | |
| ENST00000356443.8:c.2025+35C>T | ENSP00000348821.4:n.2025+35C>T | |
| ENST00000400569.7:c.1614+35C>T | ENSP00000383413.4:n.1614+35C>T | |
| ENST00000577294.1:n.81+35C>T | ||
| NM_003803.3:c.2025+35C>T , LRG_426t1:c.2025+35C>T | NP_003794.3:n.2025+35C>T | |
| NM_019856.1:c.2025+35C>T | NP_062830.1:n.2025+35C>T | |
| XR_935071.1:n.2122+35C>T | ||
| XM_017026062.1:c.2025+35C>T | XP_016881551.1:n.2025+35C>T | |
| XM_024451281.1:c.2124+35C>T | XP_024307049.1:n.2124+35C>T | |
| XR_935071.2:n.2122+35C>T | ||
| NM_003803.4:c.2025+35C>T MANE Select | NP_003794.3:n.2025+35C>T | |
| NM_019856.2:c.2025+35C>T | NP_062830.1:n.2025+35C>T |